Linked Data
dbSNP Id:
rs4952197
gnomAD v2:
2-31767131-A-G
gnomAD v3:
2-31542061-A-G
gnomAD v4:
2-31542061-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31542061A>G , CM000664.2:g.31542061A>G | GRCh38 |
| NC_000002.11:g.31767131A>G , CM000664.1:g.31767131A>G | GRCh37 |
| NC_000002.10:g.31620635A>G | NCBI36 |
| NG_008365.1:g.43911T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.282-8295T>C MANE Select | ENSP00000477587.1:n.282-8295T>C | |
| ENST00000622030.1:c.282-8295T>C | ENSP00000477587.1:n.282-8295T>C | |
| NM_000348.3:c.282-8295T>C | NP_000339.2:n.282-8295T>C | |
| XM_011533068.1:c.282-8295T>C | XP_011531370.1:n.282-8295T>C | |
| XM_011533069.1:c.60-8295T>C | XP_011531371.1:n.60-8295T>C | |
| XM_011533070.1:c.27-8295T>C | XP_011531372.1:n.27-8295T>C | |
| XM_011533071.1:c.27-8295T>C | XP_011531373.1:n.27-8295T>C | |
| XM_011533072.1:c.27-8295T>C | XP_011531374.1:n.27-8295T>C | |
| XM_011533069.2:c.60-8295T>C | XP_011531371.1:n.60-8295T>C | |
| XM_011533072.2:c.27-8295T>C | XP_011531374.1:n.27-8295T>C | |
| NM_000348.4:c.282-8295T>C MANE Select | NP_000339.2:n.282-8295T>C |