Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714303C>G , CM000681.2:g.6714303C>G | GRCh38 |
| NC_000019.9:g.6714314C>G , CM000681.1:g.6714314C>G | GRCh37 |
| NC_000019.8:g.6665314C>G | NCBI36 |
| NG_009557.1:g.11349G>C , LRG_27:g.11349G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.476+49G>C | ENSP00000512083.1:n.476+49G>C | |
| ENST00000245907.11:c.599+49G>C MANE Select | ENSP00000245907.4:n.599+49G>C | |
| ENST00000245907.10:c.599+49G>C | ENSP00000245907.4:n.599+49G>C | |
| ENST00000595577.1:n.49G>C | ||
| NM_000064.3:c.599+49G>C | NP_000055.2:n.599+49G>C | |
| NM_000064.4:c.599+49G>C MANE Select | NP_000055.2:n.599+49G>C |