Linked Data
dbSNP Id:
rs1588214865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814260A>C , CM000671.2:g.129814260A>C | GRCh38 |
| NC_000009.11:g.132576539A>C , CM000671.1:g.132576539A>C | GRCh37 |
| NC_000009.10:g.131616360A>C | NCBI36 |
| NG_008049.1:g.14903T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.749-38T>G MANE Select | ENSP00000345719.4:n.749-38T>G | |
| ENST00000651202.1:c.*17-38T>G | ENSP00000498222.1:n.*17-38T>G | |
| ENST00000351698.4:c.749-38T>G | ENSP00000345719.4:n.749-38T>G | |
| ENST00000474192.1:n.333-38T>G | ||
| NM_000113.2:c.749-38T>G | NP_000104.1:n.749-38T>G | |
| XR_929731.1:n.1076-38T>G | ||
| XR_929731.3:n.944-38T>G | ||
| NM_000113.3:c.749-38T>G MANE Select | NP_000104.1:n.749-38T>G |