Linked Data
dbSNP Id:
rs2131001445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814261C>T , CM000671.2:g.129814261C>T | GRCh38 |
| NC_000009.11:g.132576540C>T , CM000671.1:g.132576540C>T | GRCh37 |
| NC_000009.10:g.131616361C>T | NCBI36 |
| NG_008049.1:g.14902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.749-39G>A MANE Select | ENSP00000345719.4:n.749-39G>A | |
| ENST00000651202.1:c.*17-39G>A | ENSP00000498222.1:n.*17-39G>A | |
| ENST00000351698.4:c.749-39G>A | ENSP00000345719.4:n.749-39G>A | |
| ENST00000474192.1:n.333-39G>A | ||
| NM_000113.2:c.749-39G>A | NP_000104.1:n.749-39G>A | |
| XR_929731.1:n.1076-39G>A | ||
| XR_929731.3:n.944-39G>A | ||
| NM_000113.3:c.749-39G>A MANE Select | NP_000104.1:n.749-39G>A |