Linked Data
dbSNP Id:
rs553241289
gnomAD v2:
17-72913316-G-C
gnomAD v3:
17-74917222-G-C
gnomAD v4:
17-74917222-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74917222G>C , CM000679.2:g.74917222G>C | GRCh38 |
| NC_000017.10:g.72913316G>C , CM000679.1:g.72913316G>C | GRCh37 |
| NC_000017.9:g.70424911G>C | NCBI36 |
| NG_007882.1:g.11036C>G | |
| NG_007882.2:g.11042C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.*851C>G MANE Select | ENSP00000480279.1:n.*851C>G | |
| ENST00000614341.4:c.*851C>G | ENSP00000480279.1:n.*851C>G | |
| NM_001282489.2:c.*851C>G | NP_001269418.1:n.*851C>G | |
| NM_173477.4:c.*851C>G | NP_775748.2:n.*851C>G | |
| XM_011524296.1:c.*851C>G | XP_011522598.1:n.*851C>G | |
| XM_011524296.2:c.*851C>G | XP_011522598.1:n.*851C>G | |
| NM_173477.5:c.*851C>G MANE Select | NP_775748.2:n.*851C>G | |
| NM_001282489.3:c.*851C>G | NP_001269418.1:n.*851C>G |