Linked Data
ClinVar Variation Id:
658152
ClinVar RCV Id:
RCV000814914
dbSNP Id:
rs777868289
ExAC:
3:135980907 G / C
gnomAD v2:
3-135980907-G-C
gnomAD v3:
3-136262065-G-C
gnomAD v4:
3-136262065-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262065G>C , CM000665.2:g.136262065G>C | GRCh38 |
| NC_000003.11:g.135980907G>C , CM000665.1:g.135980907G>C | GRCh37 |
| NC_000003.10:g.137463597G>C | NCBI36 |
| NG_008939.1:g.16741G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.543G>C MANE Select | ENSP00000251654.4:p.Leu181= | |
| ENST00000251654.8:c.543G>C | ENSP00000251654.4:p.Leu181= | |
| ENST00000459873.1:c.294G>C | ENSP00000419293.1:p.Leu98= | |
| ENST00000462542.5:c.410G>C | ||
| ENST00000462637.5:c.474G>C | ENSP00000420391.1:p.Leu158= | |
| ENST00000465176.5:n.505G>C | ||
| ENST00000466072.5:c.543G>C | ENSP00000420158.1:p.Leu181= | |
| ENST00000468777.5:c.636G>C | ENSP00000419129.1:p.Leu212= | |
| ENST00000469217.5:c.603G>C | ENSP00000419027.1:p.Leu201= | |
| ENST00000471595.5:c.543G>C | ENSP00000417549.1:p.Leu181= | |
| ENST00000473073.1:n.500G>C | ||
| ENST00000474833.5:n.168+11507G>C | ||
| ENST00000475214.5:n.457G>C | ||
| ENST00000478469.5:c.543G>C | ENSP00000420759.1:p.Leu181= | |
| ENST00000482086.5:c.195G>C | ENSP00000417253.1:p.Leu65= | |
| ENST00000483687.5:c.486G>C | ENSP00000420639.1:p.Leu162= | |
| ENST00000484181.5:c.543G>C | ENSP00000417937.1:p.Leu181= | |
| ENST00000490504.5:c.372+5442G>C | ENSP00000418307.1:n.372+5442G>C | |
| NM_000532.4:c.543G>C | NP_000523.2:p.Leu181= | |
| NM_001178014.1:c.603G>C | NP_001171485.1:p.Leu201= | |
| XM_011512873.1:c.543G>C | XP_011511175.1:p.Leu181= | |
| XM_011512873.2:c.543G>C | XP_011511175.1:p.Leu181= | |
| NM_000532.5:c.543G>C MANE Select | NP_000523.2:p.Leu181= | |
| NM_001178014.2:c.603G>C | NP_001171485.1:p.Leu201= |