Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75922075T>G , CM000668.2:g.75922075T>G | GRCh38 |
| NC_000006.11:g.76631792T>G , CM000668.1:g.76631792T>G | GRCh37 |
| NC_000006.10:g.76688512T>G | NCBI36 |
| NG_041812.1:g.155604A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001563.4:c.*14A>C MANE Select | NP_001554.2:n.*14A>C |
| ENST00000369950.8:c.*14A>C MANE Select | ENSP00000358966.3:n.*14A>C |
| NM_001282368.1:c.*14A>C | NP_001269297.1:n.*14A>C |
| NM_001282368.2:c.*14A>C | NP_001269297.1:n.*14A>C |
| NM_001563.3:c.*14A>C | NP_001554.2:n.*14A>C |
| ENST00000369950.7:c.*14A>C | ENSP00000358966.3:n.*14A>C |
| ENST00000369952.3:c.491A>C | ENSP00000358968.3:n.491A>C |
| ENST00000611179.4:c.*14A>C | ENSP00000481913.1:n.*14A>C |