Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35389907A>C , CM000684.2:g.35389907A>C | GRCh38 |
| NC_000022.10:g.35785900A>C , CM000684.1:g.35785900A>C | GRCh37 |
| NC_000022.9:g.34115900A>C | NCBI36 |
| NG_023030.1:g.13841A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216117.9:c.680A>C MANE Select | ENSP00000216117.8:p.Asp227Ala | |
| ENST00000481190.2:c.*585A>C | ENSP00000503987.1:n.*585A>C | |
| ENST00000677931.1:c.188A>C | ENSP00000502849.1:p.Asp63Ala | |
| ENST00000678411.1:c.287A>C | ENSP00000503526.1:p.Asp96Ala | |
| ENST00000679074.1:c.636+2731A>C | ENSP00000503459.1:n.636+2731A>C | |
| ENST00000216117.8:c.680A>C | ENSP00000216117.8:p.Asp227Ala | |
| ENST00000494998.1:n.181A>C | ||
| NM_002133.2:c.680A>C | NP_002124.1:p.Asp227Ala | |
| NM_002133.3:c.680A>C MANE Select | NP_002124.1:p.Asp227Ala |