Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246082T>C , CM000674.2:g.65246082T>C | GRCh38 |
| NC_000012.11:g.65639862T>C , CM000674.1:g.65639862T>C | GRCh37 |
| NC_000012.10:g.63926129T>C | NCBI36 |
| NG_016210.1:g.81512T>C | |
| NG_016210.2:g.81512T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2573-80T>C MANE Select | ENSP00000308369.2:n.2573-80T>C | |
| ENST00000308330.2:c.2573-80T>C | ENSP00000308369.2:n.2573-80T>C | |
| ENST00000539442.1:n.555-80T>C | ||
| ENST00000544506.1:n.293-80T>C | ||
| ENST00000545026.1:n.391-80T>C | ||
| NM_001167614.1:c.2570-80T>C | NP_001161086.1:n.2570-80T>C | |
| NM_014319.4:c.2573-80T>C | NP_055134.2:n.2573-80T>C | |
| NM_014319.5:c.2573-80T>C MANE Select | NP_055134.2:n.2573-80T>C | |
| NM_001167614.2:c.2570-80T>C | NP_001161086.1:n.2570-80T>C |