Linked Data
dbSNP Id:
rs1207208524
gnomAD v2:
21-34398736-A-G
gnomAD v3:
21-33026428-A-G
gnomAD v4:
21-33026428-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33026428A>G , CM000683.2:g.33026428A>G | GRCh38 |
| NC_000021.8:g.34398736A>G , CM000683.1:g.34398736A>G | GRCh37 |
| NC_000021.7:g.33320606A>G | NCBI36 |
| NG_011834.1:g.5498A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382357.4:c.-62-373A>G MANE Select | ENSP00000371794.3:n.-62-373A>G | |
| ENST00000333337.3:c.-435A>G | ENSP00000331040.3:n.-435A>G | |
| ENST00000382357.3:c.-62-373A>G | ENSP00000371794.3:n.-62-373A>G | |
| ENST00000430860.1:c.-63+168A>G | ENSP00000391183.1:n.-63+168A>G | |
| NM_005806.3:c.-62-373A>G | NP_005797.1:n.-62-373A>G | |
| XM_005260908.1:c.-63+168A>G | XP_005260965.1:n.-63+168A>G | |
| NM_005806.4:c.-62-373A>G MANE Select | NP_005797.1:n.-62-373A>G |