Linked Data
ClinVar Variation Id:
766645
ClinVar RCV Id:
RCV001410020
dbSNP Id:
rs751200837
ExAC:
3:135980847 T / G
gnomAD v2:
3-135980847-T-G
gnomAD v4:
3-136262005-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262005T>G , CM000665.2:g.136262005T>G | GRCh38 |
| NC_000003.11:g.135980847T>G , CM000665.1:g.135980847T>G | GRCh37 |
| NC_000003.10:g.137463537T>G | NCBI36 |
| NG_008939.1:g.16681T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.483T>G MANE Select | ENSP00000251654.4:p.Ser161= | |
| ENST00000251654.8:c.483T>G | ENSP00000251654.4:p.Ser161= | |
| ENST00000459873.1:c.234T>G | ENSP00000419293.1:p.Ser78= | |
| ENST00000462542.5:c.350T>G | ||
| ENST00000462637.5:c.414T>G | ENSP00000420391.1:p.Ser138= | |
| ENST00000465176.5:n.445T>G | ||
| ENST00000465423.5:c.570T>G | ENSP00000419263.1:p.Ser190= | |
| ENST00000466072.5:c.483T>G | ENSP00000420158.1:p.Ser161= | |
| ENST00000468777.5:c.576T>G | ENSP00000419129.1:p.Ser192= | |
| ENST00000469217.5:c.543T>G | ENSP00000419027.1:p.Ser181= | |
| ENST00000471595.5:c.483T>G | ENSP00000417549.1:p.Ser161= | |
| ENST00000473073.1:n.440T>G | ||
| ENST00000474833.5:n.168+11447T>G | ||
| ENST00000475214.5:n.397T>G | ||
| ENST00000478469.5:c.483T>G | ENSP00000420759.1:p.Ser161= | |
| ENST00000482086.5:c.135T>G | ENSP00000417253.1:p.Ser45= | |
| ENST00000483687.5:c.426T>G | ENSP00000420639.1:p.Ser142= | |
| ENST00000484181.5:c.483T>G | ENSP00000417937.1:p.Ser161= | |
| ENST00000490504.5:c.372+5382T>G | ENSP00000418307.1:n.372+5382T>G | |
| ENST00000494742.5:c.234T>G | ENSP00000418020.1:p.Ser78= | |
| NM_000532.4:c.483T>G | NP_000523.2:p.Ser161= | |
| NM_001178014.1:c.543T>G | NP_001171485.1:p.Ser181= | |
| XM_011512873.1:c.483T>G | XP_011511175.1:p.Ser161= | |
| XM_011512873.2:c.483T>G | XP_011511175.1:p.Ser161= | |
| NM_000532.5:c.483T>G MANE Select | NP_000523.2:p.Ser161= | |
| NM_001178014.2:c.543T>G | NP_001171485.1:p.Ser181= |