Linked Data
dbSNP Id:
rs755324351
ExAC:
9:97401630 C / T
gnomAD v2:
9-97401630-C-T
gnomAD v3:
9-94639348-C-T
gnomAD v4:
9-94639348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639348C>T , CM000671.2:g.94639348C>T | GRCh38 |
| NC_000009.11:g.97401630C>T , CM000671.1:g.97401630C>T | GRCh37 |
| NC_000009.10:g.96441451C>T | NCBI36 |
| NG_008174.1:g.5902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375326.9:c.-38G>A MANE Select | ENSP00000364475.5:n.-38G>A | |
| ENST00000375326.8:c.-38G>A | ENSP00000364475.4:n.-38G>A | |
| ENST00000414122.1:c.-83+696G>A | ENSP00000411619.1:n.-83+696G>A | |
| ENST00000415431.5:c.-24-14G>A | ENSP00000408025.1:n.-24-14G>A | |
| NM_000507.3:c.-38G>A | NP_000498.2:n.-38G>A | |
| NM_001127628.1:c.-24-14G>A | NP_001121100.1:n.-24-14G>A | |
| XM_006717005.2:c.-77+696G>A | XP_006717068.1:n.-77+696G>A | |
| XM_006717005.4:c.-77+696G>A | XP_006717068.1:n.-77+696G>A | |
| NM_000507.4:c.-38G>A MANE Select | NP_000498.2:n.-38G>A | |
| NM_001127628.2:c.-24-14G>A | NP_001121100.1:n.-24-14G>A |