Linked Data
dbSNP Id:
rs1470920009
gnomAD v2:
17-72916218-C-T
gnomAD v4:
17-74920123-C-T
COSMIC:
COSM3370899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920123C>T , CM000679.2:g.74920123C>T | GRCh38 |
| NC_000017.10:g.72916218C>T , CM000679.1:g.72916218C>T | GRCh37 |
| NC_000017.9:g.70427813C>T | NCBI36 |
| NG_007882.1:g.8134G>A | |
| NG_033062.1:g.849C>T | |
| NG_007882.2:g.8141G>A | |
| NG_033062.2:g.849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.713G>A MANE Select | ENSP00000480279.1:p.Arg238His | |
| ENST00000579243.1:c.*312G>A | ENSP00000462568.1:n.*312G>A | |
| ENST00000614341.4:c.713G>A | ENSP00000480279.1:p.Arg238His | |
| NM_001282489.2:c.404G>A | NP_001269418.1:p.Arg135His | |
| NM_173477.4:c.713G>A | NP_775748.2:p.Arg238His | |
| XM_011524296.1:c.404G>A | XP_011522598.1:p.Arg135His | |
| XM_011524296.2:c.404G>A | XP_011522598.1:p.Arg135His | |
| NM_173477.5:c.713G>A MANE Select | NP_775748.2:p.Arg238His | |
| NM_001282489.3:c.404G>A | NP_001269418.1:p.Arg135His |