Linked Data
dbSNP Id:
rs747949227
ExAC:
9:101340220 C / T
gnomAD v2:
9-101340220-C-T
gnomAD v4:
9-98577938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98577938C>T , CM000671.2:g.98577938C>T | GRCh38 |
| NC_000009.11:g.101340220C>T , CM000671.1:g.101340220C>T | GRCh37 |
| NC_000009.10:g.100380041C>T | NCBI36 |
| NG_016426.1:g.136260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.456G>A MANE Select | ENSP00000259455.2:p.Val152= | |
| ENST00000637410.1:n.234G>A | ||
| ENST00000637717.1:c.72G>A | ENSP00000490789.1:p.Val24= | |
| ENST00000259455.3:c.456G>A | ENSP00000259455.2:p.Val152= | |
| ENST00000634227.1:n.230G>A | ||
| NM_005458.7:c.456G>A | NP_005449.5:p.Val152= | |
| NM_005458.8:c.456G>A MANE Select | NP_005449.5:p.Val152= |