Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35387150A>T , CM000684.2:g.35387150A>T | GRCh38 |
| NC_000022.10:g.35783143A>T , CM000684.1:g.35783143A>T | GRCh37 |
| NC_000022.9:g.34113143A>T | NCBI36 |
| NG_023030.1:g.11084A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002133.3:c.610A>T MANE Select | NP_002124.1:p.Lys204Ter |
| ENST00000216117.9:c.610A>T MANE Select | ENSP00000216117.8:p.Lys204Ter |
| NM_002133.2:c.610A>T | NP_002124.1:p.Lys204Ter |
| ENST00000216117.8:c.610A>T | ENSP00000216117.8:p.Lys204Ter |
| ENST00000481190.2:c.*515A>T | ENSP00000503987.1:n.*515A>T |
| ENST00000494998.1:n.111A>T | |
| ENST00000677931.1:c.145-2714A>T | ENSP00000502849.1:n.145-2714A>T |
| ENST00000678411.1:c.217A>T | ENSP00000503526.1:p.Lys73Ter |
| ENST00000679074.1:c.610A>T | ENSP00000503459.1:p.Lys204Ter |