Linked Data
dbSNP Id:
rs430397
ExAC:
9:128001119 C / T
gnomAD v2:
9-128001119-C-T
gnomAD v3:
9-125238840-C-T
gnomAD v4:
9-125238840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.125238840C>T , CM000671.2:g.125238840C>T | GRCh38 |
| NC_000009.11:g.128001119C>T , CM000671.1:g.128001119C>T | GRCh37 |
| NC_000009.10:g.127040940C>T | NCBI36 |
| NG_027761.1:g.7548G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324460.7:c.997-13G>A MANE Select | ENSP00000324173.6:n.997-13G>A | |
| ENST00000679355.1:n.1339G>A | ||
| ENST00000679475.1:n.1581-13G>A | ||
| ENST00000680032.1:c.997-13G>A | ENSP00000506285.1:n.997-13G>A | |
| ENST00000680234.1:n.1253-13G>A | ||
| ENST00000680257.1:n.1253-13G>A | ||
| ENST00000680272.1:c.996+101G>A | ENSP00000506097.1:n.996+101G>A | |
| ENST00000680494.1:n.2408G>A | ||
| ENST00000680640.1:n.1948-13G>A | ||
| ENST00000681045.1:n.1877-13G>A | ||
| ENST00000681424.1:n.1339G>A | ||
| ENST00000681540.1:n.1253-13G>A | ||
| ENST00000681544.1:n.1328-13G>A | ||
| ENST00000681675.1:n.1877-13G>A | ||
| ENST00000681774.1:n.2219-13G>A | ||
| ENST00000324460.6:c.997-13G>A | ENSP00000324173.6:n.997-13G>A | |
| NM_005347.4:c.997-13G>A | NP_005338.1:n.997-13G>A | |
| NM_005347.5:c.997-13G>A MANE Select | NP_005338.1:n.997-13G>A |