Linked Data
dbSNP Id:
rs754686832
ExAC:
17:42030492 C / A
gnomAD v2:
17-42030492-C-A
gnomAD v3:
17-43953124-C-A
gnomAD v4:
17-43953124-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43953124C>A , CM000679.2:g.43953124C>A | GRCh38 |
| NC_000017.10:g.42030492C>A , CM000679.1:g.42030492C>A | GRCh37 |
| NC_000017.9:g.39386018C>A | NCBI36 |
| NG_023338.1:g.56346G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592796.2:c.254G>T | ENSP00000467310.1:p.Arg85Leu | |
| ENST00000692052.1:c.254G>T MANE Select | ENSP00000509262.1:p.Arg85Leu | |
| ENST00000360085.6:c.254G>T | ENSP00000353198.1:p.Arg85Leu | |
| ENST00000592796.1:c.254G>T | ENSP00000467310.1:p.Arg85Leu | |
| NM_004160.4:c.254G>T | NP_004151.3:p.Arg85Leu | |
| XM_011525035.1:c.254G>T | XP_011523337.1:p.Arg85Leu | |
| NM_004160.5:c.254G>T | NP_004151.3:p.Arg85Leu | |
| NM_001394028.1:c.254G>T MANE Select | NP_001380957.1:p.Arg85Leu | |
| NM_001394029.1:c.254G>T | NP_001380958.1:p.Arg85Leu | |
| NM_004160.6:c.254G>T | NP_004151.4:p.Arg85Leu |