Linked Data
dbSNP Id:
rs12003612
gnomAD v2:
9-26940723-C-T
gnomAD v3:
9-26940725-C-T
gnomAD v4:
9-26940725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26940725C>T , CM000671.2:g.26940725C>T | GRCh38 |
| NC_000009.11:g.26940723C>T , CM000671.1:g.26940723C>T | GRCh37 |
| NC_000009.10:g.26930723C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397292.8:c.150-5519G>A MANE Select | ENSP00000380460.3:n.150-5519G>A | |
| ENST00000397292.7:c.150-5519G>A | ENSP00000380460.3:n.150-5519G>A | |
| ENST00000520884.5:c.150-5519G>A | ENSP00000429372.1:n.150-5519G>A | |
| ENST00000523212.1:c.88-5528G>A | ||
| NM_001031689.2:c.150-5519G>A | NP_001026859.1:n.150-5519G>A | |
| XM_011518071.1:c.150-5519G>A | XP_011516373.1:n.150-5519G>A | |
| XM_011518072.1:c.150-5519G>A | XP_011516374.1:n.150-5519G>A | |
| NM_001321546.1:c.150-5519G>A | NP_001308475.1:n.150-5519G>A | |
| XM_011518072.3:c.150-5519G>A | XP_011516374.1:n.150-5519G>A | |
| XM_017015319.2:c.150-5519G>A | XP_016870808.1:n.150-5519G>A | |
| XR_001746420.2:n.372-5519G>A | ||
| NM_001031689.3:c.150-5519G>A MANE Select | NP_001026859.1:n.150-5519G>A | |
| NM_001321546.2:c.150-5519G>A | NP_001308475.1:n.150-5519G>A |