dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122146362G>C , CM000674.2:g.122146362G>C | GRCh38 |
| NC_000012.11:g.122630909G>C , CM000674.1:g.122630909G>C | GRCh37 |
| NC_000012.10:g.121196862G>C | NCBI36 |
| NG_033995.1:g.72635G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319080.12:c.*4550G>C MANE Select | ENSP00000312834.6:n.*4550G>C | |
| ENST00000319080.11:c.*4550G>C | ENSP00000312834.6:n.*4550G>C | |
| NM_014938.5:c.*4550G>C | NP_055753.3:n.*4550G>C | |
| XM_006719290.4:c.*4542G>C | XP_006719353.1:n.*4542G>C | |
| XM_006719291.4:c.*4542G>C | XP_006719354.1:n.*4542G>C | |
| XM_006719294.4:c.*4542G>C | XP_006719357.1:n.*4542G>C | |
| XR_001748624.2:n.7170G>C | ||
| XR_944508.3:n.7295G>C | ||
| XR_944509.3:n.7298G>C | ||
| NM_014938.6:c.*4550G>C MANE Select | NP_055753.3:n.*4550G>C |