Linked Data
dbSNP Id:
rs561522683
gnomAD v2:
17-72913375-G-C
gnomAD v3:
17-74917281-G-C
gnomAD v4:
17-74917281-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74917281G>C , CM000679.2:g.74917281G>C | GRCh38 |
| NC_000017.10:g.72913375G>C , CM000679.1:g.72913375G>C | GRCh37 |
| NC_000017.9:g.70424970G>C | NCBI36 |
| NG_007882.1:g.10977C>G | |
| NG_007882.2:g.10983C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.*792C>G MANE Select | ENSP00000480279.1:n.*792C>G | |
| ENST00000614341.4:c.*792C>G | ENSP00000480279.1:n.*792C>G | |
| NM_001282489.2:c.*792C>G | NP_001269418.1:n.*792C>G | |
| NM_173477.4:c.*792C>G | NP_775748.2:n.*792C>G | |
| XM_011524296.1:c.*792C>G | XP_011522598.1:n.*792C>G | |
| XM_011524296.2:c.*792C>G | XP_011522598.1:n.*792C>G | |
| NM_173477.5:c.*792C>G MANE Select | NP_775748.2:n.*792C>G | |
| NM_001282489.3:c.*792C>G | NP_001269418.1:n.*792C>G |