Linked Data
ClinVar Variation Id:
343466
ClinVar RCV Id:
RCV000270284
dbSNP Id:
rs543691110
gnomAD v4:
3-136283848-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136283848G>C , CM000665.2:g.136283848G>C | GRCh38 |
| NC_000003.11:g.136002690G>C , CM000665.1:g.136002690G>C | GRCh37 |
| NC_000003.10:g.137485380G>C | NCBI36 |
| NG_008939.1:g.38524G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.555G>C MANE Select | ENSP00000251654.4:p.Thr185= | |
| ENST00000251654.8:c.555G>C | ENSP00000251654.4:p.Thr185= | |
| ENST00000459873.1:c.306G>C | ENSP00000419293.1:p.Thr102= | |
| ENST00000462542.5:c.422G>C | ||
| ENST00000462637.5:c.486G>C | ENSP00000420391.1:p.Thr162= | |
| ENST00000465176.5:n.517G>C | ||
| ENST00000466072.5:c.555G>C | ENSP00000420158.1:p.Thr185= | |
| ENST00000468777.5:c.648G>C | ENSP00000419129.1:p.Thr216= | |
| ENST00000469217.5:c.615G>C | ENSP00000419027.1:p.Thr205= | |
| ENST00000471595.5:c.555G>C | ENSP00000417549.1:p.Thr185= | |
| ENST00000473073.1:n.512G>C | ||
| ENST00000474833.5:n.180G>C | ||
| ENST00000475214.5:n.469G>C | ||
| ENST00000478469.5:c.555G>C | ENSP00000420759.1:p.Thr185= | |
| ENST00000482086.5:c.207G>C | ENSP00000417253.1:p.Thr69= | |
| ENST00000483687.5:c.498G>C | ENSP00000420639.1:p.Thr166= | |
| ENST00000484181.5:c.555G>C | ENSP00000417937.1:p.Thr185= | |
| ENST00000490504.5:c.384G>C | ENSP00000418307.1:p.Thr128= | |
| NM_000532.4:c.555G>C | NP_000523.2:p.Thr185= | |
| NM_001178014.1:c.615G>C | NP_001171485.1:p.Thr205= | |
| XM_011512873.1:c.555G>C | XP_011511175.1:p.Thr185= | |
| XM_011512873.2:c.555G>C | XP_011511175.1:p.Thr185= | |
| NM_000532.5:c.555G>C MANE Select | NP_000523.2:p.Thr185= | |
| NM_001178014.2:c.615G>C | NP_001171485.1:p.Thr205= |