Linked Data
dbSNP Id:
rs766704570
ExAC:
6:137147485 G / A
gnomAD v2:
6-137147485-G-A
gnomAD v4:
6-136826347-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136826347G>A , CM000668.2:g.136826347G>A | GRCh38 |
| NC_000006.11:g.137147485G>A , CM000668.1:g.137147485G>A | GRCh37 |
| NC_000006.10:g.137189178G>A | NCBI36 |
| NG_008462.1:g.8768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.217G>A MANE Select | ENSP00000315680.3:p.Val73Met | |
| ENST00000541292.6:c.217G>A | ENSP00000441004.1:p.Val73Met | |
| ENST00000678002.1:c.92G>A | ||
| ENST00000678557.1:c.103G>A | ENSP00000502962.1:p.Val35Met | |
| ENST00000678593.1:c.222G>A | ENSP00000503841.1:p.Met74Ile | |
| ENST00000679286.1:c.97G>A | ENSP00000503168.1:p.Val33Met | |
| ENST00000318471.4:c.217G>A | ENSP00000315680.3:p.Val73Met | |
| ENST00000367756.8:c.217G>A | ENSP00000356730.4:p.Val73Met | |
| ENST00000541292.5:c.217G>A | ENSP00000441004.1:p.Val73Met | |
| NM_000288.3:c.217G>A | NP_000279.1:p.Val73Met | |
| XM_005267019.3:c.103G>A | XP_005267076.1:p.Val35Met | |
| XM_006715502.1:c.217G>A | XP_006715565.1:p.Val73Met | |
| XM_011535900.1:c.217G>A | XP_011534202.1:p.Val73Met | |
| XM_005267019.4:c.103G>A | XP_005267076.1:p.Val35Met | |
| XM_006715502.2:c.217G>A | XP_006715565.1:p.Val73Met | |
| XM_017010934.2:c.217G>A | XP_016866423.1:p.Val73Met | |
| NM_000288.4:c.217G>A MANE Select | NP_000279.1:p.Val73Met |