Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188984952C>T , CM000664.2:g.188984952C>T | GRCh38 |
| NC_000002.11:g.189849678C>T , CM000664.1:g.189849678C>T | GRCh37 |
| NC_000002.10:g.189557923C>T | NCBI36 |
| NG_007404.1:g.15580C>T , LRG_3:g.15580C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.272C>T MANE Select | NP_000081.2:p.Pro91Leu |
| ENST00000304636.9:c.272C>T MANE Select | ENSP00000304408.4:p.Pro91Leu |
| NM_000090.3:c.272C>T , LRG_3t1:c.272C>T | NP_000081.1:p.Pro91Leu |
| ENST00000304636.7:c.272C>T | ENSP00000304408.3:p.Pro91Leu |
| ENST00000317840.9:c.272C>T | ENSP00000315243.6:p.Pro91Leu |
| ENST00000450867.2:c.272C>T | ENSP00000415346.2:p.Pro91Leu |
| ENST00000470167.1:n.368C>T |