Linked Data
dbSNP Id:
rs771537581
ExAC:
18:29121180 G / A
gnomAD v2:
18-29121180-G-A
gnomAD v4:
18-31541217-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541217G>A , CM000680.2:g.31541217G>A | GRCh38 |
| NC_000018.9:g.29121180G>A , CM000680.1:g.29121180G>A | GRCh37 |
| NC_000018.8:g.27375178G>A | NCBI36 |
| NG_007072.3:g.47976G>A , LRG_397:g.47976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1904G>A MANE Select | ENSP00000261590.8:p.Cys635Tyr | |
| ENST00000261590.12:c.1904G>A | ENSP00000261590.8:p.Cys635Tyr | |
| NM_001943.3:c.1904G>A , LRG_397t1:c.1904G>A | NP_001934.2:p.Cys635Tyr | |
| NM_001943.4:c.1904G>A | NP_001934.2:p.Cys635Tyr | |
| XM_024451095.1:c.1370G>A | XP_024306863.1:p.Cys457Tyr | |
| NM_001943.5:c.1904G>A MANE Select | NP_001934.2:p.Cys635Tyr |