Linked Data
dbSNP Id:
rs1237576960
gnomAD v2:
17-4637723-G-C
gnomAD v3:
17-4734428-G-C
gnomAD v4:
17-4734428-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734428G>C , CM000679.2:g.4734428G>C | GRCh38 |
| NC_000017.10:g.4637723G>C , CM000679.1:g.4637723G>C | GRCh37 |
| NC_000017.9:g.4584472G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*75C>G MANE Select | ENSP00000293778.7:n.*75C>G | |
| ENST00000574412.6:c.*178C>G | ENSP00000459592.2:n.*178C>G | |
| ENST00000293778.10:c.*75C>G | ENSP00000293778.6:n.*75C>G | |
| ENST00000574412.5:c.*178C>G | ENSP00000459592.1:n.*178C>G | |
| ENST00000576153.5:n.631C>G | ||
| NM_022059.3:c.*75C>G | NP_071342.2:n.*75C>G | |
| NM_022059.4:c.*75C>G | NP_071342.2:n.*75C>G | |
| NM_001386809.1:c.*75C>G MANE Select | NP_001373738.1:n.*75C>G |