Linked Data
dbSNP Id:
rs2038921018
gnomAD v4:
17-74920149-G-A
MyVariant Identifiers:
chr17:g.72916244G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920149G>A , CM000679.2:g.74920149G>A | GRCh38 |
| NC_000017.10:g.72916244G>A , CM000679.1:g.72916244G>A | GRCh37 |
| NC_000017.9:g.70427839G>A | NCBI36 |
| NG_007882.1:g.8108C>T | |
| NG_033062.1:g.875G>A | |
| NG_007882.2:g.8115C>T | |
| NG_033062.2:g.875G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.687C>T MANE Select | ENSP00000480279.1:p.Gly229= | |
| ENST00000579243.1:c.*286C>T | ENSP00000462568.1:n.*286C>T | |
| ENST00000614341.4:c.687C>T | ENSP00000480279.1:p.Gly229= | |
| NM_001282489.2:c.378C>T | NP_001269418.1:p.Gly126= | |
| NM_173477.4:c.687C>T | NP_775748.2:p.Gly229= | |
| XM_011524296.1:c.378C>T | XP_011522598.1:p.Gly126= | |
| XM_011524296.2:c.378C>T | XP_011522598.1:p.Gly126= | |
| NM_173477.5:c.687C>T MANE Select | NP_775748.2:p.Gly229= | |
| NM_001282489.3:c.378C>T | NP_001269418.1:p.Gly126= |