Linked Data
ClinVar Variation Id:
365857
dbSNP Id:
rs10781499
ExAC:
9:139266405 G / A
gnomAD v2:
9-139266405-G-A
gnomAD v3:
9-136371953-G-A
gnomAD v4:
9-136371953-G-A
COSMIC:
COSM3763765
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136371953G>A , CM000671.2:g.136371953G>A | GRCh38 |
| NC_000009.11:g.139266405G>A , CM000671.1:g.139266405G>A | GRCh37 |
| NC_000009.10:g.138386226G>A | NCBI36 |
| NG_021197.1:g.6729C>T , LRG_178:g.6729C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641290.2:n.131C>T | ||
| ENST00000695905.1:n.254C>T | ||
| ENST00000695906.1:n.254C>T | ||
| ENST00000695908.1:n.245C>T | ||
| ENST00000696169.1:c.126C>T | ENSP00000512460.1:p.Pro42= | |
| ENST00000371732.10:c.126C>T MANE Select | ENSP00000360797.5:p.Pro42= | |
| ENST00000641290.1:c.-187C>T | ENSP00000493113.1:n.-187C>T | |
| ENST00000371732.9:c.126C>T | ENSP00000360797.5:p.Pro42= | |
| ENST00000371734.7:c.126C>T | ENSP00000360799.3:p.Pro42= | |
| ENST00000481053.5:n.255C>T | ||
| ENST00000489932.2:c.126C>T | ENSP00000451368.1:p.Pro42= | |
| ENST00000556340.1:n.257C>T | ||
| NM_052813.4:c.126C>T , LRG_178t1:c.126C>T | NP_434700.2:p.Pro42= | |
| NM_052814.3:c.126C>T | NP_434701.1:p.Pro42= | |
| NM_052813.5:c.126C>T MANE Select | NP_434700.2:p.Pro42= | |
| NM_052814.4:c.126C>T | NP_434701.1:p.Pro42= |