Linked Data
ClinVar Variation Id:
241418
ClinVar RCV Id:
RCV002356308
dbSNP Id:
rs563998083
ExAC:
1:231557038 C / T
gnomAD v2:
1-231557038-C-T
gnomAD v3:
1-231421292-C-T
gnomAD v4:
1-231421292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231421292C>T , CM000663.2:g.231421292C>T | GRCh38 |
| NC_000001.10:g.231557038C>T , CM000663.1:g.231557038C>T | GRCh37 |
| NC_000001.9:g.229623661C>T | NCBI36 |
| NG_015865.1:g.8753G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366641.4:c.597G>A MANE Select | ENSP00000355601.3:p.Val199= | |
| ENST00000653198.1:n.433+41180G>A | ||
| ENST00000653908.1:c.30+41146G>A | ENSP00000499669.1:n.30+41146G>A | |
| ENST00000662216.1:c.30+41146G>A | ENSP00000499467.1:n.30+41146G>A | |
| ENST00000366641.3:c.597G>A | ENSP00000355601.3:p.Val199= | |
| NM_022051.2:c.597G>A | NP_071334.1:p.Val199= | |
| XM_005273166.3:c.597G>A | XP_005273223.1:p.Val199= | |
| XM_005273167.3:c.597G>A | XP_005273224.1:p.Val199= | |
| XM_005273166.5:c.597G>A | XP_005273223.1:p.Val199= | |
| XM_005273167.5:c.597G>A | XP_005273224.1:p.Val199= | |
| XM_024447734.1:c.597G>A | XP_024303502.1:p.Val199= | |
| NM_001377260.1:c.597G>A | NP_001364189.1:p.Val199= | |
| NM_001377261.1:c.597G>A | NP_001364190.1:p.Val199= | |
| NM_022051.3:c.597G>A MANE Select | NP_071334.1:p.Val199= |