Linked Data
dbSNP Id:
rs138711341
ExAC:
1:115220026 C / T
gnomAD v2:
1-115220026-C-T
gnomAD v3:
1-114677405-C-T
gnomAD v4:
1-114677405-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677405C>T , CM000663.2:g.114677405C>T | GRCh38 |
| NC_000001.10:g.115220026C>T , CM000663.1:g.115220026C>T | GRCh37 |
| NC_000001.9:g.115021549C>T | NCBI36 |
| NG_008012.1:g.23151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1322G>A | ENSP00000358551.4:p.Cys441Tyr | |
| ENST00000520113.7:c.1334G>A MANE Select | ENSP00000430075.3:p.Cys445Tyr | |
| ENST00000637080.1:c.1117G>A | ENSP00000489753.1:n.1117G>A | |
| ENST00000639077.1:n.999G>A | ||
| ENST00000369538.3:c.1421G>A | ENSP00000358551.3:p.Cys474Tyr | |
| ENST00000520113.6:c.1433G>A | ENSP00000430075.2:p.Cys478Tyr | |
| NM_000036.2:c.1433G>A | NP_000027.2:p.Cys478Tyr | |
| NM_001172626.1:c.1421G>A | NP_001166097.1:p.Cys474Tyr | |
| NM_000036.3:c.1334G>A MANE Select | NP_000027.3:p.Cys445Tyr | |
| NM_001172626.2:c.1322G>A | NP_001166097.2:p.Cys441Tyr |