Linked Data
dbSNP Id:
rs774719095
ExAC:
17:40556848 C / T
gnomAD v2:
17-40556848-C-T
gnomAD v4:
17-42404830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404830C>T , CM000679.2:g.42404830C>T | GRCh38 |
| NC_000017.10:g.40556848C>T , CM000679.1:g.40556848C>T | GRCh37 |
| NC_000017.9:g.37810374C>T | NCBI36 |
| NG_015845.1:g.23491G>A | |
| NG_015845.2:g.23491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1030G>A MANE Select | ENSP00000349541.4:p.Val344Met | |
| ENST00000357037.5:c.1030G>A | ENSP00000349541.4:p.Val344Met | |
| NM_012232.5:c.1030G>A | NP_036364.2:p.Val344Met | |
| NM_012232.6:c.1030G>A MANE Select | NP_036364.2:p.Val344Met |