Linked Data
dbSNP Id:
rs746169044
ExAC:
16:28847569 G / C
gnomAD v2:
16-28847569-G-C
gnomAD v4:
16-28836248-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28836248G>C , CM000678.2:g.28836248G>C | GRCh38 |
| NC_000016.9:g.28847569G>C , CM000678.1:g.28847569G>C | GRCh37 |
| NC_000016.8:g.28755070G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336783.9:c.3211G>C MANE Select | ENSP00000338718.4:p.Val1071Leu | |
| ENST00000325215.10:c.3139+72G>C | ENSP00000315650.6:n.3139+72G>C | |
| ENST00000336783.8:c.3211G>C | ENSP00000338718.4:p.Val1071Leu | |
| ENST00000340394.12:c.3085+126G>C | ENSP00000341459.8:n.3085+126G>C | |
| ENST00000382686.8:c.3085+126G>C | ENSP00000372133.4:n.3085+126G>C | |
| ENST00000395547.6:c.3139+72G>C | ENSP00000378917.2:n.3139+72G>C | |
| ENST00000562583.5:c.1186G>C | ENSP00000456162.2:p.Val396Leu | |
| ENST00000563314.5:n.3585G>C | ||
| ENST00000564162.1:c.280+126G>C | ENSP00000455427.1:n.280+126G>C | |
| ENST00000564304.5:c.3157+72G>C | ENSP00000457613.1:n.3157+72G>C | |
| ENST00000565971.5:c.2275G>C | ENSP00000457599.1:n.2275G>C | |
| ENST00000566007.5:c.354+126G>C | ||
| ENST00000566946.5:c.1189G>C | ENSP00000454757.1:p.Val397Leu | |
| ENST00000570200.5:c.3139+72G>C | ENSP00000454516.1:n.3139+72G>C | |
| NM_001308230.1:c.3157+72G>C | NP_001295159.1:n.3157+72G>C | |
| NM_007245.3:c.3211G>C | NP_009176.2:p.Val1071Leu | |
| NM_017492.3:c.3139+72G>C | NP_059867.3:n.3139+72G>C | |
| NM_145714.2:c.3139+72G>C | NP_663760.1:n.3139+72G>C | |
| NM_148414.2:c.3139+72G>C | NP_680780.1:n.3139+72G>C | |
| NM_148415.2:c.3085+126G>C | NP_680781.1:n.3085+126G>C | |
| NM_148416.2:c.3085+126G>C | NP_680782.1:n.3085+126G>C | |
| XM_005255061.1:c.3160+72G>C | XP_005255118.1:n.3160+72G>C | |
| XM_005255062.1:c.3160+72G>C | XP_005255119.1:n.3160+72G>C | |
| XM_005255063.2:c.3160+72G>C | XP_005255120.1:n.3160+72G>C | |
| XM_005255064.1:c.3157+72G>C | XP_005255121.1:n.3157+72G>C | |
| XM_005255065.1:c.3142+72G>C | XP_005255122.1:n.3142+72G>C | |
| XM_005255066.1:c.3139+72G>C | XP_005255123.1:n.3139+72G>C | |
| XM_005255067.1:c.3107-78G>C | XP_005255124.1:n.3107-78G>C | |
| XM_005255068.1:c.3107-78G>C | XP_005255125.1:n.3107-78G>C | |
| XM_005255069.1:c.3232G>C | XP_005255126.1:p.Val1078Leu | |
| XM_005255070.1:c.3160+72G>C | XP_005255127.1:n.3160+72G>C | |
| XM_005255071.1:c.3160+72G>C | XP_005255128.1:n.3160+72G>C | |
| XM_005255074.1:c.3106+126G>C | XP_005255131.1:n.3106+126G>C | |
| XM_005255075.1:c.3106+126G>C | XP_005255132.1:n.3106+126G>C | |
| XM_005255076.1:c.3103+126G>C | XP_005255133.1:n.3103+126G>C | |
| XM_005255077.1:c.2980+72G>C | XP_005255134.1:n.2980+72G>C | |
| XM_006721007.1:c.3088+72G>C | XP_006721070.1:n.3088+72G>C | |
| XM_006721008.1:c.3070+72G>C | XP_006721071.1:n.3070+72G>C | |
| XM_006721009.1:c.3160+72G>C | XP_006721072.1:n.3160+72G>C | |
| XM_006721010.2:c.3160+72G>C | XP_006721073.1:n.3160+72G>C | |
| XM_006721011.1:c.3106+126G>C | XP_006721074.1:n.3106+126G>C | |
| XM_006721012.2:c.3106+126G>C | XP_006721075.1:n.3106+126G>C | |
| XM_006721013.2:c.3106+126G>C | XP_006721076.1:n.3106+126G>C | |
| XM_011545719.1:c.3160+72G>C | XP_011544021.1:n.3160+72G>C | |
| XM_011545720.1:c.3160+72G>C | XP_011544022.1:n.3160+72G>C | |
| XM_011545721.1:c.3106+126G>C | XP_011544023.1:n.3106+126G>C | |
| XM_011545722.1:c.2794+72G>C | XP_011544024.1:n.2794+72G>C | |
| XR_243256.1:n.3441G>C | ||
| XM_005255063.4:c.3160+72G>C | XP_005255120.1:n.3160+72G>C | |
| XM_006721012.4:c.3106+126G>C | XP_006721075.1:n.3106+126G>C | |
| XM_011545719.2:c.3160+72G>C | XP_011544021.1:n.3160+72G>C | |
| XM_017022891.1:c.2962+72G>C | XP_016878380.1:n.2962+72G>C | |
| XM_017022892.1:c.2776+72G>C | XP_016878381.1:n.2776+72G>C | |
| XR_001751820.1:n.3444G>C | ||
| NM_001308230.2:c.3157+72G>C | NP_001295159.1:n.3157+72G>C | |
| NM_001387166.1:c.3157+72G>C | NP_001374095.1:n.3157+72G>C | |
| NM_001387167.1:c.3139+72G>C | NP_001374096.1:n.3139+72G>C | |
| NM_001387168.1:c.3139+72G>C | NP_001374097.1:n.3139+72G>C | |
| NM_001387169.1:c.3104-78G>C | NP_001374098.1:n.3104-78G>C | |
| NM_001387170.1:c.3104-78G>C | NP_001374099.1:n.3104-78G>C | |
| NM_001387171.1:c.3232G>C | NP_001374100.1:p.Val1078Leu | |
| NM_001387172.1:c.3229G>C | NP_001374101.1:p.Val1077Leu | |
| NM_001387173.1:c.3089-78G>C | NP_001374102.1:n.3089-78G>C | |
| NM_001387174.1:c.3086-78G>C | NP_001374103.1:n.3086-78G>C | |
| NM_001387175.1:c.3086-78G>C | NP_001374104.1:n.3086-78G>C | |
| NM_001387176.1:c.3086-78G>C | NP_001374105.1:n.3086-78G>C | |
| NM_001387177.1:c.3086-78G>C | NP_001374106.1:n.3086-78G>C | |
| NM_001387178.1:c.3214G>C | NP_001374107.1:p.Val1072Leu | |
| NM_001387179.1:c.3067+72G>C | NP_001374108.1:n.3067+72G>C | |
| NM_001387180.1:c.3205G>C | NP_001374109.1:p.Val1069Leu | |
| NM_001387181.1:c.3160+72G>C | NP_001374110.1:n.3160+72G>C | |
| NM_001387182.1:c.3157+72G>C | NP_001374111.1:n.3157+72G>C | |
| NM_001387183.1:c.3142+72G>C | NP_001374112.1:n.3142+72G>C | |
| NM_001387184.1:c.3142+72G>C | NP_001374113.1:n.3142+72G>C | |
| NM_001387185.1:c.3014-78G>C | NP_001374114.1:n.3014-78G>C | |
| NM_001387186.1:c.3142G>C | NP_001374115.1:p.Val1048Leu | |
| NM_001387187.1:c.3142G>C | NP_001374116.1:p.Val1048Leu | |
| NM_001387188.1:c.3139G>C | NP_001374117.1:p.Val1047Leu | |
| NM_001387189.1:c.3103+126G>C | NP_001374118.1:n.3103+126G>C | |
| NM_001387190.1:c.3103+126G>C | NP_001374119.1:n.3103+126G>C | |
| NM_001387191.1:c.3088+126G>C | NP_001374120.1:n.3088+126G>C | |
| NM_001387192.1:c.3088+126G>C | NP_001374121.1:n.3088+126G>C | |
| NM_001387193.1:c.3103+126G>C | NP_001374122.1:n.3103+126G>C | |
| NM_001387194.1:c.3088+126G>C | NP_001374123.1:n.3088+126G>C | |
| NM_001387195.1:c.3085+126G>C | NP_001374124.1:n.3085+126G>C | |
| NM_001387196.1:c.3085+126G>C | NP_001374125.1:n.3085+126G>C | |
| NM_001387197.1:c.3085+72G>C | NP_001374126.1:n.3085+72G>C | |
| NM_001387198.1:c.3085+126G>C | NP_001374127.1:n.3085+126G>C | |
| NM_001387199.1:c.3016+126G>C | NP_001374128.1:n.3016+126G>C | |
| NM_001387200.1:c.3031+126G>C | NP_001374129.1:n.3031+126G>C | |
| NM_001387202.1:c.3013+126G>C | NP_001374131.1:n.3013+126G>C | |
| NM_001387203.1:c.3022G>C | NP_001374132.1:p.Val1008Leu | |
| NM_001387204.1:c.2949+72G>C | NP_001374133.1:n.2949+72G>C | |
| NM_007245.4:c.3211G>C MANE Select | NP_009176.2:p.Val1071Leu | |
| NM_017492.4:c.3139+72G>C | NP_059867.3:n.3139+72G>C | |
| NM_145714.3:c.3139+72G>C | NP_663760.1:n.3139+72G>C | |
| NM_148414.3:c.3139+72G>C | NP_680780.1:n.3139+72G>C | |
| NM_148415.3:c.3085+126G>C | NP_680781.1:n.3085+126G>C | |
| NM_148416.3:c.3085+126G>C | NP_680782.1:n.3085+126G>C |