Linked Data
dbSNP Id:
rs1182467194
gnomAD v2:
2-31751374-G-A
gnomAD v3:
2-31526304-G-A
gnomAD v4:
2-31526304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31526304G>A , CM000664.2:g.31526304G>A | GRCh38 |
| NC_000002.11:g.31751374G>A , CM000664.1:g.31751374G>A | GRCh37 |
| NC_000002.10:g.31604878G>A | NCBI36 |
| NG_008365.1:g.59668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.699-42C>T MANE Select | ENSP00000477587.1:n.699-42C>T | |
| ENST00000622030.1:c.699-42C>T | ENSP00000477587.1:n.699-42C>T | |
| NM_000348.3:c.699-42C>T | NP_000339.2:n.699-42C>T | |
| XM_011533069.1:c.477-42C>T | XP_011531371.1:n.477-42C>T | |
| XM_011533070.1:c.444-42C>T | XP_011531372.1:n.444-42C>T | |
| XM_011533071.1:c.444-42C>T | XP_011531373.1:n.444-42C>T | |
| XM_011533072.1:c.444-42C>T | XP_011531374.1:n.444-42C>T | |
| XM_011533069.2:c.477-42C>T | XP_011531371.1:n.477-42C>T | |
| XM_011533072.2:c.444-42C>T | XP_011531374.1:n.444-42C>T | |
| NM_000348.4:c.699-42C>T MANE Select | NP_000339.2:n.699-42C>T |