Linked Data
dbSNP Id:
rs764528364
ExAC:
9:132576534 C / T
gnomAD v2:
9-132576534-C-T
gnomAD v3:
9-129814255-C-T
gnomAD v4:
9-129814255-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814255C>T , CM000671.2:g.129814255C>T | GRCh38 |
| NC_000009.11:g.132576534C>T , CM000671.1:g.132576534C>T | GRCh37 |
| NC_000009.10:g.131616355C>T | NCBI36 |
| NG_008049.1:g.14908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.749-33G>A MANE Select | ENSP00000345719.4:n.749-33G>A | |
| ENST00000651202.1:c.*17-33G>A | ENSP00000498222.1:n.*17-33G>A | |
| ENST00000351698.4:c.749-33G>A | ENSP00000345719.4:n.749-33G>A | |
| ENST00000474192.1:n.333-33G>A | ||
| NM_000113.2:c.749-33G>A | NP_000104.1:n.749-33G>A | |
| XR_929731.1:n.1076-33G>A | ||
| XR_929731.3:n.944-33G>A | ||
| NM_000113.3:c.749-33G>A MANE Select | NP_000104.1:n.749-33G>A |