Linked Data
dbSNP Id:
rs764719233
ExAC:
6:51524762 A / G
gnomAD v2:
6-51524762-A-G
gnomAD v4:
6-51659964-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659964A>G , CM000668.2:g.51659964A>G | GRCh38 |
| NC_000006.11:g.51524762A>G , CM000668.1:g.51524762A>G | GRCh37 |
| NC_000006.10:g.51632721A>G | NCBI36 |
| NG_008753.1:g.432662T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10162T>C MANE Select | ENSP00000360158.3:p.Phe3388Leu | |
| ENST00000371117.7:c.10162T>C | ENSP00000360158.3:p.Phe3388Leu | |
| NM_138694.3:c.10162T>C | NP_619639.3:p.Phe3388Leu | |
| XM_011514679.1:c.10162T>C | XP_011512981.1:p.Phe3388Leu | |
| XM_011514680.1:c.10162T>C | XP_011512982.1:p.Phe3388Leu | |
| XM_011514681.1:c.10033T>C | XP_011512983.1:p.Phe3345Leu | |
| XM_011514682.1:c.10024T>C | XP_011512984.1:p.Phe3342Leu | |
| XM_011514683.1:c.9520T>C | XP_011512985.1:p.Phe3174Leu | |
| XM_011514684.1:c.9451T>C | XP_011512986.1:p.Phe3151Leu | |
| XM_011514687.1:c.10157-10744T>C | XP_011512989.1:n.10157-10744T>C | |
| XM_011514690.1:c.4237T>C | XP_011512992.1:p.Phe1413Leu | |
| XM_011514691.1:c.4237T>C | XP_011512993.1:p.Phe1413Leu | |
| XR_926870.1:n.535+7591A>G | ||
| XR_926871.1:n.403+7591A>G | ||
| XR_926872.1:n.535+7591A>G | ||
| XM_011514680.3:c.10162T>C | XP_011512982.1:p.Phe3388Leu | |
| XM_011514682.3:c.10024T>C | XP_011512984.1:p.Phe3342Leu | |
| XM_011514683.3:c.9520T>C | XP_011512985.1:p.Phe3174Leu | |
| XM_011514684.3:c.9451T>C | XP_011512986.1:p.Phe3151Leu | |
| XM_011514690.3:c.4237T>C | XP_011512992.1:p.Phe1413Leu | |
| XM_011514691.3:c.4237T>C | XP_011512993.1:p.Phe1413Leu | |
| XM_017010944.2:c.10162T>C | XP_016866433.1:p.Phe3388Leu | |
| XM_017010945.2:c.10087T>C | XP_016866434.1:p.Phe3363Leu | |
| XM_017010946.2:c.9967T>C | XP_016866435.1:p.Phe3323Leu | |
| XM_017010947.2:c.9898T>C | XP_016866436.1:p.Phe3300Leu | |
| XM_017010948.2:c.9451T>C | XP_016866437.1:p.Phe3151Leu | |
| XM_017010949.2:c.8302T>C | XP_016866438.1:p.Phe2768Leu | |
| XR_001743469.1:n.10438T>C | ||
| XR_001744157.1:n.3145+7591A>G | ||
| XR_926870.2:n.3145+7591A>G | ||
| XR_926871.2:n.3013+7591A>G | ||
| XR_926872.2:n.3145+7591A>G | ||
| NM_138694.4:c.10162T>C MANE Select | NP_619639.3:p.Phe3388Leu |