Linked Data
ClinVar Variation Id:
2971443
ClinVar RCV Id:
RCV003827625
dbSNP Id:
rs781577964
ExAC:
3:98304387 C / T
gnomAD v2:
3-98304387-C-T
gnomAD v4:
3-98585543-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585543C>T , CM000665.2:g.98585543C>T | GRCh38 |
| NC_000003.11:g.98304387C>T , CM000665.1:g.98304387C>T | GRCh37 |
| NC_000003.10:g.99787077C>T | NCBI36 |
| NG_015994.1:g.13069G>A | |
| NG_015994.2:g.13069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.1070G>A MANE Select | ENSP00000497326.1:p.Cys357Tyr | |
| ENST00000264193.2:c.1070G>A | ENSP00000264193.2:p.Cys357Tyr | |
| ENST00000510489.1:n.320G>A | ||
| NM_000097.5:c.1070G>A | NP_000088.3:p.Cys357Tyr | |
| XM_005247125.3:c.1070G>A | XP_005247182.1:p.Cys357Tyr | |
| NM_000097.7:c.1070G>A MANE Select | NP_000088.3:p.Cys357Tyr | |
| XM_005247125.4:c.1070G>A | XP_005247182.1:p.Cys357Tyr | |
| XR_001740025.2:n.1241G>A | ||
| XR_001740026.1:n.1805G>A | ||
| XR_001740027.1:n.1345G>A | ||
| XR_001740028.1:n.1311G>A |