Linked Data
ClinVar Variation Id:
945610
ClinVar RCV Id:
RCV001216286
dbSNP Id:
rs944314548
gnomAD v4:
X-37783599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783599C>T , CM000685.2:g.37783599C>T | GRCh38 |
| NC_000023.10:g.37642852C>T , CM000685.1:g.37642852C>T | GRCh37 |
| NC_000023.9:g.37527796C>T | NCBI36 |
| NG_009065.1:g.8583C>T , LRG_53:g.8583C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.251C>T | ENSP00000512461.1:p.Ala84Val | |
| ENST00000696171.1:c.155C>T | ENSP00000512462.1:p.Ala52Val | |
| ENST00000696172.1:c.251C>T | ENSP00000512463.1:p.Ala84Val | |
| ENST00000696173.1:n.259C>T | ||
| ENST00000378588.5:c.251C>T MANE Select | ENSP00000367851.4:p.Ala84Val | |
| ENST00000378588.4:c.251C>T | ENSP00000367851.4:p.Ala84Val | |
| ENST00000465127.1:c.171+357599C>T | ENSP00000417050.1:n.171+357599C>T | |
| NM_000397.3:c.251C>T , LRG_53t1:c.251C>T | NP_000388.2:p.Ala84Val | |
| XM_011543890.1:c.-180C>T | XP_011542192.1:n.-180C>T | |
| NM_000397.4:c.251C>T MANE Select | NP_000388.2:p.Ala84Val |