Linked Data
dbSNP Id:
rs339501
gnomAD v2:
5-44365633-C-T
gnomAD v3:
5-44365531-C-T
gnomAD v4:
5-44365531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44365531C>T , CM000667.2:g.44365531C>T | GRCh38 |
| NC_000005.9:g.44365633C>T , CM000667.1:g.44365633C>T | GRCh37 |
| NC_000005.8:g.44401390C>T | NCBI36 |
| NG_011446.1:g.28152G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264664.5:c.325+22827G>A MANE Select | ENSP00000264664.4:n.325+22827G>A | |
| ENST00000264664.4:c.325+22827G>A | ENSP00000264664.4:n.325+22827G>A | |
| NM_004465.1:c.325+22827G>A | NP_004456.1:n.325+22827G>A | |
| XM_005248264.2:c.325+22827G>A | XP_005248321.1:n.325+22827G>A | |
| XM_005248264.4:c.325+22827G>A | XP_005248321.1:n.325+22827G>A | |
| NM_004465.2:c.325+22827G>A MANE Select | NP_004456.1:n.325+22827G>A |