Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151316886C>T , CM000667.2:g.151316886C>T | GRCh38 |
| NC_000005.9:g.150696447C>T , CM000667.1:g.150696447C>T | GRCh37 |
| NC_000005.8:g.150676640C>T | NCBI36 |
| NG_027745.1:g.35705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335244.9:c.1383G>A MANE Select | ENSP00000334223.4:p.Gln461= | |
| ENST00000335244.8:c.1383G>A | ENSP00000334223.4:p.Gln461= | |
| ENST00000518280.5:c.*854G>A | ENSP00000428453.1:n.*854G>A | |
| ENST00000518617.5:c.*951G>A | ENSP00000430149.1:n.*951G>A | |
| NM_181776.2:c.1383G>A | NP_861441.2:p.Gln461= | |
| XM_006714756.2:c.1284G>A | XP_006714819.1:p.Gln428= | |
| XM_006714756.4:c.1284G>A | XP_006714819.1:p.Gln428= | |
| XM_017009084.1:c.789G>A | XP_016864573.1:p.Gln263= | |
| NM_181776.3:c.1383G>A MANE Select | NP_861441.2:p.Gln461= |