Linked Data
ClinVar Variation Id:
12527
ClinVar RCV Id:
RCV000013353
dbSNP Id:
rs121918713
ExAC:
9:101894968 G / T
gnomAD v2:
9-101894968-G-T
gnomAD v4:
9-99132686-G-T
PubMed:
PMID:18070134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99132686G>T , CM000671.2:g.99132686G>T | GRCh38 |
| NC_000009.11:g.101894968G>T , CM000671.1:g.101894968G>T | GRCh37 |
| NC_000009.10:g.100934789G>T | NCBI36 |
| NG_007461.1:g.32557G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547314.6:c.314G>T | ENSP00000449934.2:p.Gly105Val | |
| ENST00000552573.7:c.326G>T | ENSP00000447182.3:p.Gly109Val | |
| ENST00000548365.6:c.326G>T | ENSP00000448518.2:p.Gly109Val | |
| ENST00000549021.6:c.136+3586G>T | ENSP00000449028.2:n.136+3586G>T | |
| ENST00000698941.1:c.326G>T | ENSP00000514048.1:p.Gly109Val | |
| ENST00000698942.1:c.*317G>T | ENSP00000514049.1:n.*317G>T | |
| ENST00000374994.9:c.521G>T MANE Select | ENSP00000364133.4:p.Gly174Val | |
| ENST00000374990.6:c.343+3586G>T | ENSP00000364129.2:n.343+3586G>T | |
| ENST00000374994.8:c.521G>T | ENSP00000364133.4:p.Gly174Val | |
| ENST00000546584.1:c.314G>T | ENSP00000447707.2:p.Gly105Val | |
| ENST00000547314.5:c.314G>T | ENSP00000449934.1:p.Gly105Val | |
| ENST00000548365.5:c.326G>T | ENSP00000448518.1:p.Gly109Val | |
| ENST00000549021.5:c.136+3586G>T | ENSP00000449028.1:n.136+3586G>T | |
| ENST00000549766.5:c.533G>T | ENSP00000446685.1:p.Gly178Val | |
| ENST00000550253.1:c.314G>T | ENSP00000450052.1:p.Gly105Val | |
| ENST00000552516.5:c.533G>T | ENSP00000447297.1:p.Gly178Val | |
| ENST00000552573.6:c.326G>T | ENSP00000447182.2:p.Gly109Val | |
| NM_001130916.1:c.343+3586G>T | NP_001124388.1:n.343+3586G>T | |
| NM_001130916.2:c.343+3586G>T | NP_001124388.1:n.343+3586G>T | |
| NM_001306210.1:c.533G>T | NP_001293139.1:p.Gly178Val | |
| NM_004612.2:c.521G>T | NP_004603.1:p.Gly174Val | |
| NM_004612.3:c.521G>T | NP_004603.1:p.Gly174Val | |
| XM_011518948.1:c.326G>T | XP_011517250.1:p.Gly109Val | |
| XM_011518949.1:c.314G>T | XP_011517251.1:p.Gly105Val | |
| XM_011518950.1:c.136+3586G>T | XP_011517252.1:n.136+3586G>T | |
| XM_011518948.2:c.326G>T | XP_011517250.1:p.Gly109Val | |
| XM_011518949.2:c.314G>T | XP_011517251.1:p.Gly105Val | |
| XM_011518950.2:c.136+3586G>T | XP_011517252.1:n.136+3586G>T | |
| XM_017015063.1:c.326G>T | XP_016870552.1:p.Gly109Val | |
| XM_024447658.1:c.314G>T | XP_024303426.1:p.Gly105Val | |
| NM_004612.4:c.521G>T MANE Select | NP_004603.1:p.Gly174Val | |
| NM_001130916.3:c.343+3586G>T | NP_001124388.1:n.343+3586G>T | |
| NM_001306210.2:c.533G>T | NP_001293139.1:p.Gly178Val |