Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169515529A>G , CM000663.2:g.169515529A>G | GRCh38 |
| NC_000001.10:g.169484767A>G , CM000663.1:g.169484767A>G | GRCh37 |
| NC_000001.9:g.167751391A>G | NCBI36 |
| NG_011806.1:g.76003T>C , LRG_553:g.76003T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.6443T>C MANE Select | ENSP00000356771.3:p.Met2148Thr | |
| ENST00000367796.3:c.6458T>C | ENSP00000356770.3:p.Met2153Thr | |
| ENST00000367797.7:c.6443T>C | ENSP00000356771.3:p.Met2148Thr | |
| ENST00000495481.1:n.217T>C | ||
| NM_000130.4:c.6443T>C , LRG_553t1:c.6443T>C | NP_000121.2:p.Met2148Thr | |
| XM_017000660.2:c.6032T>C | XP_016856149.1:p.Met2011Thr | |
| NM_000130.5:c.6443T>C MANE Select | NP_000121.2:p.Met2148Thr |