Linked Data
dbSNP Id:
rs2227667
gnomAD v2:
7-100774749-A-G
gnomAD v3:
7-101131468-A-G
gnomAD v4:
7-101131468-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101131468A>G , CM000669.2:g.101131468A>G | GRCh38 |
| NC_000007.13:g.100774749A>G , CM000669.1:g.100774749A>G | GRCh37 |
| NC_000007.12:g.100561469A>G | NCBI36 |
| NG_013213.1:g.9371A>G , LRG_597:g.9371A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223095.5:c.506-407A>G MANE Select | ENSP00000223095.4:n.506-407A>G | |
| ENST00000223095.4:c.506-407A>G | ENSP00000223095.4:n.506-407A>G | |
| NM_000602.4:c.506-407A>G , LRG_597t1:c.506-407A>G | NP_000593.1:n.506-407A>G | |
| NM_000602.5:c.506-407A>G MANE Select | NP_000593.1:n.506-407A>G | |
| NM_001386456.1:c.254-407A>G | NP_001373385.1:n.254-407A>G | |
| NM_001386457.1:c.506-407A>G | NP_001373386.1:n.506-407A>G | |
| NM_001386458.1:c.506-407A>G | NP_001373387.1:n.506-407A>G | |
| NM_001386459.1:c.506-407A>G | NP_001373388.1:n.506-407A>G | |
| NM_001386460.1:c.506-407A>G | NP_001373389.1:n.506-407A>G | |
| NM_001386461.1:c.506-407A>G | NP_001373390.1:n.506-407A>G | |
| NM_001386462.1:c.305-407A>G | NP_001373391.1:n.305-407A>G | |
| NM_001386463.1:c.500-407A>G | NP_001373392.1:n.500-407A>G | |
| NM_001386464.1:c.506-407A>G | NP_001373393.1:n.506-407A>G | |
| NM_001386465.1:c.506-407A>G | NP_001373394.1:n.506-407A>G | |
| NM_001386466.1:c.530-407A>G | NP_001373395.1:n.530-407A>G |