Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940696A>G , CM000678.2:g.67940696A>G | GRCh38 |
| NC_000016.9:g.67974599A>G , CM000678.1:g.67974599A>G | GRCh37 |
| NC_000016.8:g.66532100A>G | NCBI36 |
| NG_009778.1:g.8417T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.749-218T>C MANE Select | ENSP00000264005.5:n.749-218T>C | |
| ENST00000264005.9:c.749-218T>C | ENSP00000264005.5:n.749-218T>C | |
| ENST00000570369.5:c.156-622T>C | ||
| ENST00000570980.1:c.533-218T>C | ENSP00000464651.1:n.533-218T>C | |
| ENST00000573538.5:c.486+41T>C | ENSP00000463220.1:n.486+41T>C | |
| NM_000229.1:c.749-218T>C | NP_000220.1:n.749-218T>C | |
| NM_000229.2:c.749-218T>C MANE Select | NP_000220.1:n.749-218T>C |