Linked Data
ClinVar Variation Id:
783205
dbSNP Id:
rs759268055
ExAC:
16:3779864 G / A
gnomAD v2:
16-3779864-G-A
gnomAD v3:
16-3729863-G-A
gnomAD v4:
16-3729863-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729863G>A , CM000678.2:g.3729863G>A | GRCh38 |
| NC_000016.9:g.3779864G>A , CM000678.1:g.3779864G>A | GRCh37 |
| NC_000016.8:g.3719865G>A | NCBI36 |
| NG_009873.1:g.155258C>T | |
| NG_009873.2:g.155851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5184C>T MANE Select | ENSP00000262367.5:p.Leu1728= | |
| ENST00000262367.9:c.5184C>T | ENSP00000262367.5:p.Leu1728= | |
| ENST00000382070.7:c.5070C>T | ENSP00000371502.3:p.Leu1690= | |
| NM_001079846.1:c.5070C>T | NP_001073315.1:p.Leu1690= | |
| NM_004380.2:c.5184C>T | NP_004371.2:p.Leu1728= | |
| XM_005255124.3:c.5139C>T | XP_005255181.1:p.Leu1713= | |
| XM_005255125.3:c.4767C>T | XP_005255182.1:p.Leu1589= | |
| XM_006720848.2:c.4923C>T | XP_006720911.1:p.Leu1641= | |
| XM_011522380.1:c.5130C>T | XP_011520682.1:p.Leu1710= | |
| XM_011522381.1:c.4431C>T | XP_011520683.1:p.Leu1477= | |
| XM_005255124.4:c.5139C>T | XP_005255181.1:p.Leu1713= | |
| XM_005255125.4:c.4767C>T | XP_005255182.1:p.Leu1589= | |
| XM_006720848.3:c.4923C>T | XP_006720911.1:p.Leu1641= | |
| XM_011522381.2:c.4431C>T | XP_011520683.1:p.Leu1477= | |
| XM_017022944.1:c.5178C>T | XP_016878433.1:p.Leu1726= | |
| NM_004380.3:c.5184C>T MANE Select | NP_004371.2:p.Leu1728= |