Linked Data
dbSNP Id:
rs780995508
ExAC:
16:28847014 G / A
gnomAD v2:
16-28847014-G-A
gnomAD v3:
16-28835693-G-A
gnomAD v4:
16-28835693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28835693G>A , CM000678.2:g.28835693G>A | GRCh38 |
| NC_000016.9:g.28847014G>A , CM000678.1:g.28847014G>A | GRCh37 |
| NC_000016.8:g.28754515G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336783.9:c.2830G>A MANE Select | ENSP00000338718.4:p.Ala944Thr | |
| ENST00000325215.10:c.2830G>A | ENSP00000315650.6:p.Ala944Thr | |
| ENST00000336783.8:c.2830G>A | ENSP00000338718.4:p.Ala944Thr | |
| ENST00000340394.12:c.2830G>A | ENSP00000341459.8:p.Ala944Thr | |
| ENST00000382686.8:c.2830G>A | ENSP00000372133.4:p.Ala944Thr | |
| ENST00000395547.6:c.2830G>A | ENSP00000378917.2:p.Ala944Thr | |
| ENST00000562583.5:c.805G>A | ENSP00000456162.2:p.Ala269Thr | |
| ENST00000563314.5:n.3204G>A | ||
| ENST00000564162.1:c.25G>A | ENSP00000455427.1:p.Ala9Thr | |
| ENST00000564304.5:c.2848G>A | ENSP00000457613.1:p.Ala950Thr | |
| ENST00000565971.5:c.1894G>A | ENSP00000457599.1:n.1894G>A | |
| ENST00000566007.5:c.99G>A | ||
| ENST00000566946.5:c.808G>A | ENSP00000454757.1:p.Ala270Thr | |
| ENST00000569318.1:c.350G>A | ||
| ENST00000570200.5:c.2830G>A | ENSP00000454516.1:p.Ala944Thr | |
| NM_001308230.1:c.2848G>A | NP_001295159.1:p.Ala950Thr | |
| NM_007245.3:c.2830G>A | NP_009176.2:p.Ala944Thr | |
| NM_017492.3:c.2830G>A | NP_059867.3:p.Ala944Thr | |
| NM_145714.2:c.2830G>A | NP_663760.1:p.Ala944Thr | |
| NM_148414.2:c.2830G>A | NP_680780.1:p.Ala944Thr | |
| NM_148415.2:c.2830G>A | NP_680781.1:p.Ala944Thr | |
| NM_148416.2:c.2830G>A | NP_680782.1:p.Ala944Thr | |
| XM_005255061.1:c.2851G>A | XP_005255118.1:p.Ala951Thr | |
| XM_005255062.1:c.2851G>A | XP_005255119.1:p.Ala951Thr | |
| XM_005255063.2:c.2851G>A | XP_005255120.1:p.Ala951Thr | |
| XM_005255064.1:c.2848G>A | XP_005255121.1:p.Ala950Thr | |
| XM_005255065.1:c.2833G>A | XP_005255122.1:p.Ala945Thr | |
| XM_005255066.1:c.2830G>A | XP_005255123.1:p.Ala944Thr | |
| XM_005255067.1:c.2851G>A | XP_005255124.1:p.Ala951Thr | |
| XM_005255068.1:c.2851G>A | XP_005255125.1:p.Ala951Thr | |
| XM_005255069.1:c.2851G>A | XP_005255126.1:p.Ala951Thr | |
| XM_005255070.1:c.2851G>A | XP_005255127.1:p.Ala951Thr | |
| XM_005255071.1:c.2851G>A | XP_005255128.1:p.Ala951Thr | |
| XM_005255074.1:c.2851G>A | XP_005255131.1:p.Ala951Thr | |
| XM_005255075.1:c.2851G>A | XP_005255132.1:p.Ala951Thr | |
| XM_005255076.1:c.2848G>A | XP_005255133.1:p.Ala950Thr | |
| XM_005255077.1:c.2671G>A | XP_005255134.1:p.Ala891Thr | |
| XM_006721007.1:c.2779G>A | XP_006721070.1:p.Ala927Thr | |
| XM_006721008.1:c.2761G>A | XP_006721071.1:p.Ala921Thr | |
| XM_006721009.1:c.2851G>A | XP_006721072.1:p.Ala951Thr | |
| XM_006721010.2:c.2851G>A | XP_006721073.1:p.Ala951Thr | |
| XM_006721011.1:c.2851G>A | XP_006721074.1:p.Ala951Thr | |
| XM_006721012.2:c.2851G>A | XP_006721075.1:p.Ala951Thr | |
| XM_006721013.2:c.2851G>A | XP_006721076.1:p.Ala951Thr | |
| XM_011545719.1:c.2851G>A | XP_011544021.1:p.Ala951Thr | |
| XM_011545720.1:c.2851G>A | XP_011544022.1:p.Ala951Thr | |
| XM_011545721.1:c.2851G>A | XP_011544023.1:p.Ala951Thr | |
| XM_011545722.1:c.2485G>A | XP_011544024.1:p.Ala829Thr | |
| XR_243256.1:n.3060G>A | ||
| XM_005255063.4:c.2851G>A | XP_005255120.1:p.Ala951Thr | |
| XM_006721012.4:c.2851G>A | XP_006721075.1:p.Ala951Thr | |
| XM_011545719.2:c.2851G>A | XP_011544021.1:p.Ala951Thr | |
| XM_017022891.1:c.2653G>A | XP_016878380.1:p.Ala885Thr | |
| XM_017022892.1:c.2467G>A | XP_016878381.1:p.Ala823Thr | |
| XR_001751820.1:n.3063G>A | ||
| NM_001308230.2:c.2848G>A | NP_001295159.1:p.Ala950Thr | |
| NM_001387166.1:c.2848G>A | NP_001374095.1:p.Ala950Thr | |
| NM_001387167.1:c.2830G>A | NP_001374096.1:p.Ala944Thr | |
| NM_001387168.1:c.2830G>A | NP_001374097.1:p.Ala944Thr | |
| NM_001387169.1:c.2848G>A | NP_001374098.1:p.Ala950Thr | |
| NM_001387170.1:c.2848G>A | NP_001374099.1:p.Ala950Thr | |
| NM_001387171.1:c.2851G>A | NP_001374100.1:p.Ala951Thr | |
| NM_001387172.1:c.2848G>A | NP_001374101.1:p.Ala950Thr | |
| NM_001387173.1:c.2833G>A | NP_001374102.1:p.Ala945Thr | |
| NM_001387174.1:c.2830G>A | NP_001374103.1:p.Ala944Thr | |
| NM_001387175.1:c.2830G>A | NP_001374104.1:p.Ala944Thr | |
| NM_001387176.1:c.2830G>A | NP_001374105.1:p.Ala944Thr | |
| NM_001387177.1:c.2830G>A | NP_001374106.1:p.Ala944Thr | |
| NM_001387178.1:c.2833G>A | NP_001374107.1:p.Ala945Thr | |
| NM_001387179.1:c.2758G>A | NP_001374108.1:p.Ala920Thr | |
| NM_001387180.1:c.2824G>A | NP_001374109.1:p.Ala942Thr | |
| NM_001387181.1:c.2851G>A | NP_001374110.1:p.Ala951Thr | |
| NM_001387182.1:c.2848G>A | NP_001374111.1:p.Ala950Thr | |
| NM_001387183.1:c.2833G>A | NP_001374112.1:p.Ala945Thr | |
| NM_001387184.1:c.2833G>A | NP_001374113.1:p.Ala945Thr | |
| NM_001387185.1:c.2758G>A | NP_001374114.1:p.Ala920Thr | |
| NM_001387186.1:c.2761G>A | NP_001374115.1:p.Ala921Thr | |
| NM_001387187.1:c.2761G>A | NP_001374116.1:p.Ala921Thr | |
| NM_001387188.1:c.2758G>A | NP_001374117.1:p.Ala920Thr | |
| NM_001387189.1:c.2848G>A | NP_001374118.1:p.Ala950Thr | |
| NM_001387190.1:c.2848G>A | NP_001374119.1:p.Ala950Thr | |
| NM_001387191.1:c.2833G>A | NP_001374120.1:p.Ala945Thr | |
| NM_001387192.1:c.2833G>A | NP_001374121.1:p.Ala945Thr | |
| NM_001387193.1:c.2848G>A | NP_001374122.1:p.Ala950Thr | |
| NM_001387194.1:c.2833G>A | NP_001374123.1:p.Ala945Thr | |
| NM_001387195.1:c.2830G>A | NP_001374124.1:p.Ala944Thr | |
| NM_001387196.1:c.2830G>A | NP_001374125.1:p.Ala944Thr | |
| NM_001387197.1:c.2776G>A | NP_001374126.1:p.Ala926Thr | |
| NM_001387198.1:c.2830G>A | NP_001374127.1:p.Ala944Thr | |
| NM_001387199.1:c.2761G>A | NP_001374128.1:p.Ala921Thr | |
| NM_001387200.1:c.2776G>A | NP_001374129.1:p.Ala926Thr | |
| NM_001387202.1:c.2758G>A | NP_001374131.1:p.Ala920Thr | |
| NM_001387203.1:c.2641G>A | NP_001374132.1:p.Ala881Thr | |
| NM_001387204.1:c.2830G>A | NP_001374133.1:p.Ala944Thr | |
| NM_007245.4:c.2830G>A MANE Select | NP_009176.2:p.Ala944Thr | |
| NM_017492.4:c.2830G>A | NP_059867.3:p.Ala944Thr | |
| NM_145714.3:c.2830G>A | NP_663760.1:p.Ala944Thr | |
| NM_148414.3:c.2830G>A | NP_680780.1:p.Ala944Thr | |
| NM_148415.3:c.2830G>A | NP_680781.1:p.Ala944Thr | |
| NM_148416.3:c.2830G>A | NP_680782.1:p.Ala944Thr |