Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1416102A>G , CM000667.2:g.1416102A>G | GRCh38 |
| NC_000005.9:g.1416217A>G , CM000667.1:g.1416217A>G | GRCh37 |
| NC_000005.8:g.1469217A>G | NCBI36 |
| NG_015885.1:g.34327T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.1027T>C MANE Select | ENSP00000270349.9:p.Tyr343His | |
| ENST00000270349.11:c.1027T>C | ENSP00000270349.9:p.Tyr343His | |
| ENST00000511750.1:n.477T>C | ||
| NM_001044.4:c.1027T>C | NP_001035.1:p.Tyr343His | |
| NM_001044.5:c.1027T>C MANE Select | NP_001035.1:p.Tyr343His |