Linked Data
dbSNP Id:
rs4643526
gnomAD v2:
2-61184651-G-A
gnomAD v3:
2-60957516-G-A
gnomAD v4:
2-60957516-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60957516G>A , CM000664.2:g.60957516G>A | GRCh38 |
| NC_000002.11:g.61184651G>A , CM000664.1:g.61184651G>A | GRCh37 |
| NC_000002.10:g.61038155G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316752.11:c.1001-2442C>T MANE Select | ENSP00000326003.6:n.1001-2442C>T | |
| ENST00000316752.10:c.1001-2442C>T | ENSP00000326003.6:n.1001-2442C>T | |
| ENST00000407787.5:c.1001-2442C>T | ENSP00000386074.1:n.1001-2442C>T | |
| ENST00000602599.1:n.3604-2442C>T | ||
| NM_144709.2:c.1001-2442C>T | NP_653310.2:n.1001-2442C>T | |
| XM_006711952.2:c.1001-2442C>T | XP_006712015.1:n.1001-2442C>T | |
| XM_011532568.1:c.1001-2442C>T | XP_011530870.1:n.1001-2442C>T | |
| XM_011532569.1:c.1001-2442C>T | XP_011530871.1:n.1001-2442C>T | |
| XM_011532570.1:c.1001-2442C>T | XP_011530872.1:n.1001-2442C>T | |
| XM_011532571.1:c.1001-2442C>T | XP_011530873.1:n.1001-2442C>T | |
| XM_011532572.1:c.1001-2442C>T | XP_011530874.1:n.1001-2442C>T | |
| XM_011532573.1:c.1001-2442C>T | XP_011530875.1:n.1001-2442C>T | |
| XM_011532574.1:c.1001-2442C>T | XP_011530876.1:n.1001-2442C>T | |
| XM_011532575.1:c.1001-2442C>T | XP_011530877.1:n.1001-2442C>T | |
| XM_011532576.1:c.1001-2442C>T | XP_011530878.1:n.1001-2442C>T | |
| XM_011532577.1:c.1001-2442C>T | XP_011530879.1:n.1001-2442C>T | |
| XM_011532578.1:c.812-2442C>T | XP_011530880.1:n.812-2442C>T | |
| NM_001322123.1:c.1001-2442C>T | NP_001309052.1:n.1001-2442C>T | |
| NM_001322124.1:c.1001-2442C>T | NP_001309053.1:n.1001-2442C>T | |
| NM_001322127.1:c.332-2442C>T | NP_001309056.1:n.332-2442C>T | |
| NM_144709.3:c.1001-2442C>T | NP_653310.2:n.1001-2442C>T | |
| XM_011532568.3:c.1001-2442C>T | XP_011530870.1:n.1001-2442C>T | |
| XM_011532570.2:c.1001-2442C>T | XP_011530872.1:n.1001-2442C>T | |
| XM_011532571.2:c.1001-2442C>T | XP_011530873.1:n.1001-2442C>T | |
| XM_011532573.3:c.1001-2442C>T | XP_011530875.1:n.1001-2442C>T | |
| XM_011532574.3:c.1001-2442C>T | XP_011530876.1:n.1001-2442C>T | |
| XM_011532576.3:c.1001-2442C>T | XP_011530878.1:n.1001-2442C>T | |
| XM_011532578.2:c.812-2442C>T | XP_011530880.1:n.812-2442C>T | |
| XM_017003428.2:c.746-2442C>T | XP_016858917.1:n.746-2442C>T | |
| XM_017003429.2:c.746-2442C>T | XP_016858918.1:n.746-2442C>T | |
| XM_024452720.1:c.1001-2442C>T | XP_024308488.1:n.1001-2442C>T | |
| NM_144709.4:c.1001-2442C>T MANE Select | NP_653310.2:n.1001-2442C>T |