Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130163480C>T , CM000674.2:g.130163480C>T | GRCh38 |
| NC_000012.11:g.130648025C>T , CM000674.1:g.130648025C>T | GRCh37 |
| NC_000012.10:g.129213978C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007197.4:c.538C>T MANE Select | NP_009128.1:p.His180Tyr |
| ENST00000229030.5:c.538C>T MANE Select | ENSP00000229030.4:p.His180Tyr |
| NM_007197.3:c.538C>T | NP_009128.1:p.His180Tyr |
| ENST00000229030.4:c.538C>T | ENSP00000229030.4:p.His180Tyr |
| ENST00000539839.1:c.440C>T | ENSP00000438460.1:p.Ala147Val |