gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47065746G>C , CM000681.2:g.47065746G>C | GRCh38 |
| NC_000019.9:g.47569003G>C , CM000681.1:g.47569003G>C | GRCh37 |
| NC_000019.8:g.52260843G>C | NCBI36 |
| NG_027798.1:g.53007C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253048.10:c.*610C>G MANE Select | ENSP00000253048.4:n.*610C>G | |
| ENST00000253048.9:c.*610C>G | ENSP00000253048.4:n.*610C>G | |
| ENST00000594019.5:n.2372C>G | ||
| ENST00000601973.1:c.3341C>G | ||
| NM_015168.1:c.*610C>G | NP_055983.1:n.*610C>G | |
| XM_005258676.2:c.*610C>G | XP_005258733.1:n.*610C>G | |
| XM_005258677.3:c.*610C>G | XP_005258734.1:n.*610C>G | |
| XM_005258678.1:c.*610C>G | XP_005258735.1:n.*610C>G | |
| XM_006723113.2:c.*610C>G | XP_006723176.1:n.*610C>G | |
| XM_011526668.1:c.*610C>G | XP_011524970.1:n.*610C>G | |
| XM_011526669.1:c.*610C>G | XP_011524971.1:n.*610C>G | |
| XM_011526670.1:c.*610C>G | XP_011524972.1:n.*610C>G | |
| XM_011526671.1:c.*610C>G | XP_011524973.1:n.*610C>G | |
| XM_017026530.2:c.*610C>G | XP_016882019.1:n.*610C>G | |
| XM_017026531.1:c.*610C>G | XP_016882020.1:n.*610C>G | |
| NM_015168.2:c.*610C>G MANE Select | NP_055983.1:n.*610C>G |