Linked Data
ClinVar Variation Id:
1555181
ClinVar RCV Id:
RCV002192777
dbSNP Id:
rs782317099
ExAC:
X:37655332 C / T
gnomAD v2:
X-37655332-C-T
gnomAD v4:
X-37796079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796079C>T , CM000685.2:g.37796079C>T | GRCh38 |
| NC_000023.10:g.37655332C>T , CM000685.1:g.37655332C>T | GRCh37 |
| NC_000023.9:g.37540272C>T | NCBI36 |
| NG_009065.1:g.21059C>T , LRG_53:g.21059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*121C>T | ENSP00000512461.1:n.*121C>T | |
| ENST00000696171.1:c.516C>T | ENSP00000512462.1:p.Val172= | |
| ENST00000696172.1:c.338-2876C>T | ENSP00000512463.1:n.338-2876C>T | |
| ENST00000378588.5:c.612C>T MANE Select | ENSP00000367851.4:p.Val204= | |
| ENST00000378588.4:c.612C>T | ENSP00000367851.4:p.Val204= | |
| ENST00000465127.1:c.171+370079C>T | ENSP00000417050.1:n.171+370079C>T | |
| NM_000397.3:c.612C>T , LRG_53t1:c.612C>T | NP_000388.2:p.Val204= | |
| XM_011543890.1:c.306C>T | XP_011542192.1:p.Val102= | |
| NM_000397.4:c.612C>T MANE Select | NP_000388.2:p.Val204= |