Linked Data
dbSNP Id:
rs757593776
ExAC:
6:31583882 G / C
gnomAD v2:
6-31583882-G-C
gnomAD v4:
6-31616105-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31616105G>C , CM000668.2:g.31616105G>C | GRCh38 |
| NC_000006.11:g.31583882G>C , CM000668.1:g.31583882G>C | GRCh37 |
| NC_000006.10:g.31691861G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376059.8:c.156G>C MANE Select | ENSP00000365227.3:p.Glu52Asp | |
| ENST00000337917.11:c.198G>C | ENSP00000338776.7:p.Glu66Asp | |
| ENST00000376049.4:c.-7G>C | ENSP00000365217.4:n.-7G>C | |
| ENST00000376059.7:c.156G>C | ENSP00000365227.3:p.Glu52Asp | |
| ENST00000466820.1:n.573G>C | ||
| ENST00000497362.5:n.575G>C | ||
| NM_001623.3:c.156G>C | NP_001614.3:p.Glu52Asp | |
| NM_004847.3:c.-7G>C | NP_004838.1:n.-7G>C | |
| NM_032955.1:c.-7G>C | NP_116573.1:n.-7G>C | |
| XM_005248870.3:c.156G>C | XP_005248927.1:p.Glu52Asp | |
| XM_005248871.1:c.219G>C | XP_005248928.1:p.Glu73Asp | |
| NM_001318970.1:c.-7G>C | NP_001305899.1:n.-7G>C | |
| NM_001623.4:c.156G>C | NP_001614.3:p.Glu52Asp | |
| NM_032955.2:c.-7G>C | NP_116573.1:n.-7G>C | |
| XM_005248870.4:c.156G>C | XP_005248927.1:p.Glu52Asp | |
| XM_017010332.1:c.-7G>C | XP_016865821.1:n.-7G>C | |
| NM_001623.5:c.156G>C MANE Select | NP_001614.3:p.Glu52Asp | |
| NM_001318970.2:c.-7G>C | NP_001305899.1:n.-7G>C | |
| NM_032955.3:c.-7G>C | NP_116573.1:n.-7G>C |