Linked Data
gnomAD v4:
9-91950010-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91950010G>C , CM000671.2:g.91950010G>C | GRCh38 |
| NC_000009.11:g.94712292G>C , CM000671.1:g.94712292G>C | GRCh37 |
| NC_000009.10:g.93752113G>C | NCBI36 |
| NG_008089.1:g.5153C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.-47C>G MANE Select | ENSP00000364860.3:n.-47C>G | |
| ENST00000375708.3:c.-47C>G | ENSP00000364860.3:n.-47C>G | |
| NM_004560.3:c.-47C>G | NP_004551.2:n.-47C>G | |
| NM_001318204.1:c.-47C>G | NP_001305133.1:n.-47C>G | |
| XR_001746315.1:n.197C>G | ||
| NM_004560.4:c.-47C>G MANE Select | NP_004551.2:n.-47C>G | |
| NM_001318204.2:c.-47C>G | NP_001305133.1:n.-47C>G |