Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105148368A>T , CM000676.2:g.105148368A>T | GRCh38 |
| NC_000014.8:g.105614705A>T , CM000676.1:g.105614705A>T | GRCh37 |
| NC_000014.7:g.104685750A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002226.5:c.2092T>A MANE Select | NP_002217.3:p.Cys698Ser |
| ENST00000331782.8:c.2092T>A MANE Select | ENSP00000328169.3:p.Cys698Ser |
| NM_002226.4:c.2092T>A | NP_002217.3:p.Cys698Ser |
| NM_145159.2:c.1978T>A | NP_660142.1:p.Cys660Ser |
| NM_145159.3:c.1978T>A | NP_660142.1:p.Cys660Ser |
| ENST00000331782.7:c.2092T>A | ENSP00000328169.3:p.Cys698Ser |
| ENST00000347004.2:c.1978T>A | ENSP00000328566.2:p.Cys660Ser |
| ENST00000553244.1:n.27T>A | |
| XM_011536736.1:c.2058T>A | XP_011535038.1:p.Thr686= |
| XR_001750303.2:n.2119T>A |