Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159677148A>G , CM000668.2:g.159677148A>G | GRCh38 |
| NC_000006.11:g.160098180A>G , CM000668.1:g.160098180A>G | GRCh37 |
| NC_000006.10:g.160018170A>G | NCBI36 |
| NG_008729.1:g.21174T>C | |
| NG_008729.3:g.90382T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538183.7:c.*5345T>C MANE Select | ENSP00000446252.1:n.*5345T>C | |
| ENST00000538183.6:c.*5345T>C | ENSP00000446252.1:n.*5345T>C | |
| NM_000636.4:c.*5345T>C MANE Select | NP_000627.2:n.*5345T>C | |
| NM_001322814.2:c.*5345T>C | NP_001309743.1:n.*5345T>C | |
| NM_001322815.2:c.*5345T>C | NP_001309744.1:n.*5345T>C | |
| NM_001322819.2:c.*5345T>C | NP_001309748.1:n.*5345T>C | |
| NM_001322820.2:c.*5345T>C | NP_001309749.1:n.*5345T>C |