Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16939454T>G , CM000679.2:g.16939454T>G | GRCh38 |
| NC_000017.10:g.16842768T>G , CM000679.1:g.16842768T>G | GRCh37 |
| NC_000017.9:g.16783493T>G | NCBI36 |
| NG_007281.1:g.37635A>C , LRG_120:g.37635A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012452.3:c.*93A>C MANE Select | NP_036584.1:n.*93A>C |
| ENST00000261652.7:c.*93A>C MANE Select | ENSP00000261652.2:n.*93A>C |
| NM_012452.2:c.*93A>C , LRG_120t1:c.*93A>C | NP_036584.1:n.*93A>C |
| ENST00000261652.6:c.*93A>C | ENSP00000261652.2:n.*93A>C |
| ENST00000579009.1:n.1609A>C | |
| ENST00000579315.5:c.446-6278A>C | ENSP00000464069.1:n.446-6278A>C |
| ENST00000582931.5:n.350-6517A>C | |
| ENST00000583789.1:c.*93A>C | ENSP00000462952.1:n.*93A>C |
| ENST00000584950.5:c.635+202A>C | ENSP00000463582.1:n.635+202A>C |