Linked Data
ClinVar Variation Id:
194181
dbSNP Id:
rs794727092
gnomAD v2:
3-136046575-G-T
gnomAD v4:
3-136327733-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136327733G>T , CM000665.2:g.136327733G>T | GRCh38 |
| NC_000003.11:g.136046575G>T , CM000665.1:g.136046575G>T | GRCh37 |
| NC_000003.10:g.137529265G>T | NCBI36 |
| NG_008939.1:g.82409G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1398+1G>T MANE Select | ENSP00000251654.4:n.1398+1G>T | |
| ENST00000251654.8:c.1398+1G>T | ENSP00000251654.4:n.1398+1G>T | |
| ENST00000462637.5:c.1329+1G>T | ENSP00000420391.1:n.1329+1G>T | |
| ENST00000466072.5:c.1458+1G>T | ENSP00000420158.1:n.1458+1G>T | |
| ENST00000468777.5:c.1491+1G>T | ENSP00000419129.1:n.1491+1G>T | |
| ENST00000469217.5:c.1458+1G>T | ENSP00000419027.1:n.1458+1G>T | |
| ENST00000471595.5:c.1398+1G>T | ENSP00000417549.1:n.1398+1G>T | |
| ENST00000473073.1:n.1599+1G>T | ||
| ENST00000478469.5:c.885-6547G>T | ENSP00000420759.1:n.885-6547G>T | |
| ENST00000482086.5:c.1050+1G>T | ENSP00000417253.1:n.1050+1G>T | |
| ENST00000483687.5:c.1341+1G>T | ENSP00000420639.1:n.1341+1G>T | |
| ENST00000484181.5:c.*79+1G>T | ENSP00000417937.1:n.*79+1G>T | |
| ENST00000490504.5:c.1227+1G>T | ENSP00000418307.1:n.1227+1G>T | |
| NM_000532.4:c.1398+1G>T | NP_000523.2:n.1398+1G>T | |
| NM_001178014.1:c.1458+1G>T | NP_001171485.1:n.1458+1G>T | |
| NM_000532.5:c.1398+1G>T MANE Select | NP_000523.2:n.1398+1G>T | |
| NM_001178014.2:c.1458+1G>T | NP_001171485.1:n.1458+1G>T |