Linked Data
ClinVar Variation Id:
444662
ClinVar RCV Id:
RCV000513539
dbSNP Id:
rs1205787396
gnomAD v2:
5-138282969-C-T
gnomAD v4:
5-138947280-C-T
COSMIC:
COSM1061474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947280C>T , CM000667.2:g.138947280C>T | GRCh38 |
| NC_000005.9:g.138282969C>T , CM000667.1:g.138282969C>T | GRCh37 |
| NC_000005.8:g.138310868C>T | NCBI36 |
| NG_008112.1:g.256097G>A | |
| NG_008112.2:g.256097G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.1223G>A MANE Select | ENSP00000378294.2:p.Cys408Tyr | |
| ENST00000265195.9:c.1223G>A | ENSP00000265195.5:p.Cys408Tyr | |
| ENST00000394817.6:c.1223G>A | ENSP00000378294.2:p.Cys408Tyr | |
| ENST00000509534.5:c.1244G>A | ENSP00000426858.1:p.Cys415Tyr | |
| ENST00000515008.1:n.558G>A | ||
| NM_001037633.1:c.1223G>A | NP_001032722.1:p.Cys408Tyr | |
| NM_022464.4:c.1223G>A | NP_071909.1:p.Cys408Tyr | |
| XM_011543570.1:c.1253G>A | XP_011541872.1:p.Cys418Tyr | |
| XM_011543570.2:c.1253G>A | XP_011541872.1:p.Cys418Tyr | |
| XM_024446164.1:c.1223G>A | XP_024301932.1:p.Cys408Tyr | |
| NM_022464.5:c.1223G>A MANE Select | NP_071909.1:p.Cys408Tyr | |
| NM_001037633.2:c.1223G>A | NP_001032722.1:p.Cys408Tyr |