Linked Data
dbSNP Id:
rs13170645
gnomAD v2:
5-44329203-G-A
gnomAD v3:
5-44329101-G-A
gnomAD v4:
5-44329101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44329101G>A , CM000667.2:g.44329101G>A | GRCh38 |
| NC_000005.9:g.44329203G>A , CM000667.1:g.44329203G>A | GRCh37 |
| NC_000005.8:g.44364960G>A | NCBI36 |
| NG_011446.1:g.64582C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264664.5:c.326-18571C>T MANE Select | ENSP00000264664.4:n.326-18571C>T | |
| ENST00000264664.4:c.326-18571C>T | ENSP00000264664.4:n.326-18571C>T | |
| NM_004465.1:c.326-18571C>T | NP_004456.1:n.326-18571C>T | |
| XM_005248264.2:c.326-18571C>T | XP_005248321.1:n.326-18571C>T | |
| XM_005248264.4:c.326-18571C>T | XP_005248321.1:n.326-18571C>T | |
| NM_004465.2:c.326-18571C>T MANE Select | NP_004456.1:n.326-18571C>T |