Linked Data
dbSNP Id:
rs1417300549
gnomAD v2:
9-132576177-G-T
gnomAD v3:
9-129813898-G-T
gnomAD v4:
9-129813898-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813898G>T , CM000671.2:g.129813898G>T | GRCh38 |
| NC_000009.11:g.132576177G>T , CM000671.1:g.132576177G>T | GRCh37 |
| NC_000009.10:g.131615998G>T | NCBI36 |
| NG_008049.1:g.15265C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*74C>A MANE Select | ENSP00000345719.4:n.*74C>A | |
| ENST00000651202.1:c.*341C>A | ENSP00000498222.1:n.*341C>A | |
| ENST00000351698.4:c.*74C>A | ENSP00000345719.4:n.*74C>A | |
| ENST00000474192.1:n.657C>A | ||
| NM_000113.2:c.*74C>A | NP_000104.1:n.*74C>A | |
| XR_929731.3:n.1268C>A | ||
| NM_000113.3:c.*74C>A MANE Select | NP_000104.1:n.*74C>A |