Linked Data
dbSNP Id:
rs887278453
gnomAD v2:
9-132576168-G-A
gnomAD v3:
9-129813889-G-A
gnomAD v4:
9-129813889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813889G>A , CM000671.2:g.129813889G>A | GRCh38 |
| NC_000009.11:g.132576168G>A , CM000671.1:g.132576168G>A | GRCh37 |
| NC_000009.10:g.131615989G>A | NCBI36 |
| NG_008049.1:g.15274C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*83C>T MANE Select | ENSP00000345719.4:n.*83C>T | |
| ENST00000651202.1:c.*350C>T | ENSP00000498222.1:n.*350C>T | |
| ENST00000351698.4:c.*83C>T | ENSP00000345719.4:n.*83C>T | |
| ENST00000474192.1:n.666C>T | ||
| NM_000113.2:c.*83C>T | NP_000104.1:n.*83C>T | |
| XR_929731.3:n.1277C>T | ||
| NM_000113.3:c.*83C>T MANE Select | NP_000104.1:n.*83C>T |