Linked Data
dbSNP Id:
rs1556468371
gnomAD v2:
X-37655331-T-C
gnomAD v3:
X-37796078-T-C
gnomAD v4:
X-37796078-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796078T>C , CM000685.2:g.37796078T>C | GRCh38 |
| NC_000023.10:g.37655331T>C , CM000685.1:g.37655331T>C | GRCh37 |
| NC_000023.9:g.37540271T>C | NCBI36 |
| NG_009065.1:g.21058T>C , LRG_53:g.21058T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*120T>C | ENSP00000512461.1:n.*120T>C | |
| ENST00000696171.1:c.515T>C | ENSP00000512462.1:p.Val172Ala | |
| ENST00000696172.1:c.338-2877T>C | ENSP00000512463.1:n.338-2877T>C | |
| ENST00000378588.5:c.611T>C MANE Select | ENSP00000367851.4:p.Val204Ala | |
| ENST00000378588.4:c.611T>C | ENSP00000367851.4:p.Val204Ala | |
| ENST00000465127.1:c.171+370078T>C | ENSP00000417050.1:n.171+370078T>C | |
| NM_000397.3:c.611T>C , LRG_53t1:c.611T>C | NP_000388.2:p.Val204Ala | |
| XM_011543890.1:c.305T>C | XP_011542192.1:p.Val102Ala | |
| NM_000397.4:c.611T>C MANE Select | NP_000388.2:p.Val204Ala |