Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.3310850A>G , CM000685.2:g.3310850A>G | GRCh38 |
| NC_000023.10:g.3228891A>G , CM000685.1:g.3228891A>G | GRCh37 |
| NC_000023.9:g.3238891A>G | NCBI36 |
| NG_021336.1:g.40794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217939.7:c.7353T>C MANE Select | ENSP00000217939.5:p.Thr2451= | |
| ENST00000217939.6:c.7353T>C | ENSP00000217939.5:p.Thr2451= | |
| NM_015419.3:c.7353T>C | NP_056234.2:p.Thr2451= | |
| XM_005274485.1:c.7428T>C | XP_005274542.1:p.Thr2476= | |
| NM_015419.4:c.7353T>C MANE Select | NP_056234.2:p.Thr2451= |