Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039273A>G , CM000663.2:g.197039273A>G | GRCh38 |
| NC_000001.10:g.197008403A>G , CM000663.1:g.197008403A>G | GRCh37 |
| NC_000001.9:g.195275026A>G | NCBI36 |
| NG_012065.1:g.32995T>C , LRG_550:g.32995T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*105T>C MANE Select | ENSP00000356382.2:n.*105T>C | |
| ENST00000649282.1:c.846T>C | ENSP00000497116.1:n.846T>C | |
| ENST00000367412.1:c.*105T>C | ENSP00000356382.1:n.*105T>C | |
| NM_001994.2:c.*105T>C , LRG_550t1:c.*105T>C | NP_001985.2:n.*105T>C | |
| XM_011509283.2:c.*1026T>C | XP_011507585.1:n.*1026T>C | |
| XM_011509284.2:c.*1026T>C | XP_011507586.1:n.*1026T>C | |
| XM_011509286.2:c.*1026T>C | XP_011507588.1:n.*1026T>C | |
| NM_001994.3:c.*105T>C MANE Select | NP_001985.2:n.*105T>C |