Linked Data
dbSNP Id:
rs10774021
gnomAD v2:
12-349298-C-T
gnomAD v3:
12-240132-C-T
gnomAD v4:
12-240132-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.240132C>T , CM000674.2:g.240132C>T | GRCh38 |
| NC_000012.11:g.349298C>T , CM000674.1:g.349298C>T | GRCh37 |
| NC_000012.10:g.219559C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343164.9:c.479-2122G>A MANE Select | ENSP00000339260.4:n.479-2122G>A | |
| ENST00000343164.8:c.479-2122G>A | ENSP00000339260.4:n.479-2122G>A | |
| ENST00000445055.6:c.203-2122G>A | ENSP00000407104.2:n.203-2122G>A | |
| ENST00000536842.5:n.532-2122G>A | ||
| ENST00000539260.1:c.*118-2122G>A | ENSP00000437386.1:n.*118-2122G>A | |
| ENST00000542272.5:c.122-1789G>A | ENSP00000443466.1:n.122-1789G>A | |
| ENST00000546319.5:c.203-2122G>A | ENSP00000444606.1:n.203-2122G>A | |
| NM_001190997.2:c.203-2122G>A | NP_001177926.1:n.203-2122G>A | |
| NM_016615.4:c.479-2122G>A | NP_057699.2:n.479-2122G>A | |
| XM_005253749.2:c.545-2122G>A | XP_005253806.1:n.545-2122G>A | |
| XM_011521012.1:c.122-2122G>A | XP_011519314.1:n.122-2122G>A | |
| XM_011521013.1:c.-181-1789G>A | XP_011519315.1:n.-181-1789G>A | |
| XM_011521014.1:c.-181-1789G>A | XP_011519316.1:n.-181-1789G>A | |
| XM_011521012.2:c.122-2122G>A | XP_011519314.1:n.122-2122G>A | |
| XM_017019844.1:c.479-2122G>A | XP_016875333.1:n.479-2122G>A | |
| XM_017019846.1:c.479-2122G>A | XP_016875335.1:n.479-2122G>A | |
| XM_017019847.1:c.479-2122G>A | XP_016875336.1:n.479-2122G>A | |
| XR_001748849.1:n.532-2122G>A | ||
| XR_002957372.1:n.532-2122G>A | ||
| NM_016615.5:c.479-2122G>A MANE Select | NP_057699.2:n.479-2122G>A | |
| NM_001190997.3:c.203-2122G>A | NP_001177926.1:n.203-2122G>A |