Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039163A>G , CM000663.2:g.197039163A>G | GRCh38 |
| NC_000001.10:g.197008293A>G , CM000663.1:g.197008293A>G | GRCh37 |
| NC_000001.9:g.195274916A>G | NCBI36 |
| NG_012065.1:g.33105T>C , LRG_550:g.33105T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*215T>C MANE Select | ENSP00000356382.2:n.*215T>C | |
| ENST00000649282.1:c.956T>C | ENSP00000497116.1:n.956T>C | |
| XM_011509283.2:c.*1136T>C | XP_011507585.1:n.*1136T>C | |
| XM_011509284.2:c.*1136T>C | XP_011507586.1:n.*1136T>C | |
| XM_011509286.2:c.*1136T>C | XP_011507588.1:n.*1136T>C | |
| NM_001994.3:c.*215T>C MANE Select | NP_001985.2:n.*215T>C |