Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57607170C>A , CM000680.2:g.57607170C>A | GRCh38 |
| NC_000018.9:g.55274402C>A , CM000680.1:g.55274402C>A | GRCh37 |
| NC_000018.8:g.53425400C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004539.4:c.965G>T MANE Select | NP_004530.1:p.Arg322Leu |
| ENST00000256854.10:c.965G>T MANE Select | ENSP00000256854.4:p.Arg322Leu |
| NM_004539.3:c.965G>T | NP_004530.1:p.Arg322Leu |
| ENST00000256854.9:c.965G>T | ENSP00000256854.4:p.Arg322Leu |
| ENST00000411676.6:n.1083G>T | |
| ENST00000586807.5:c.*145G>T | ENSP00000464988.1:n.*145G>T |
| ENST00000589001.1:n.21G>T | |
| XM_005266700.1:c.962G>T | XP_005266757.1:p.Arg321Leu |
| XM_005266700.2:c.962G>T | XP_005266757.1:p.Arg321Leu |