Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302060A>G , CM000668.2:g.24302060A>G | GRCh38 |
| NC_000006.11:g.24302288A>G , CM000668.1:g.24302288A>G | GRCh37 |
| NC_000006.10:g.24410267A>G | NCBI36 |
| NG_012829.1:g.60993T>C | |
| NG_012829.2:g.86233T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.349-16T>C MANE Select | ENSP00000367715.3:n.349-16T>C | |
| ENST00000378454.7:c.349-16T>C | ENSP00000367715.3:n.349-16T>C | |
| NM_001195610.1:c.349-16T>C | NP_001182539.1:n.349-16T>C | |
| NM_016356.4:c.349-16T>C | NP_057440.2:n.349-16T>C | |
| NM_016356.5:c.349-16T>C MANE Select | NP_057440.2:n.349-16T>C | |
| NM_001195610.2:c.349-16T>C | NP_001182539.1:n.349-16T>C |