Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151316979C>T , CM000667.2:g.151316979C>T | GRCh38 |
| NC_000005.9:g.150696540C>T , CM000667.1:g.150696540C>T | GRCh37 |
| NC_000005.8:g.150676733C>T | NCBI36 |
| NG_027745.1:g.35612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335244.9:c.1290G>A MANE Select | ENSP00000334223.4:p.Thr430= | |
| ENST00000335244.8:c.1290G>A | ENSP00000334223.4:p.Thr430= | |
| ENST00000518280.5:c.*761G>A | ENSP00000428453.1:n.*761G>A | |
| ENST00000518617.5:c.*858G>A | ENSP00000430149.1:n.*858G>A | |
| NM_181776.2:c.1290G>A | NP_861441.2:p.Thr430= | |
| XM_006714756.2:c.1191G>A | XP_006714819.1:p.Thr397= | |
| XM_006714756.4:c.1191G>A | XP_006714819.1:p.Thr397= | |
| XM_017009084.1:c.696G>A | XP_016864573.1:p.Thr232= | |
| NM_181776.3:c.1290G>A MANE Select | NP_861441.2:p.Thr430= |