Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66209662T>C , CM000674.2:g.66209662T>C | GRCh38 |
| NC_000012.11:g.66603442T>C , CM000674.1:g.66603442T>C | GRCh37 |
| NC_000012.10:g.64889709T>C | NCBI36 |
| NG_021194.1:g.25465T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.381+142T>C MANE Select | ENSP00000261233.4:n.381+142T>C | |
| ENST00000261233.8:c.381+142T>C | ENSP00000261233.4:n.381+142T>C | |
| ENST00000457197.2:c.198+142T>C | ENSP00000409852.2:n.198+142T>C | |
| NM_001142523.1:c.198+142T>C | NP_001135995.1:n.198+142T>C | |
| NM_007199.2:c.381+142T>C | NP_009130.2:n.381+142T>C | |
| NM_001142523.2:c.198+142T>C | NP_001135995.1:n.198+142T>C | |
| NM_007199.3:c.381+142T>C MANE Select | NP_009130.2:n.381+142T>C |