Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713780C= , CM000681.2:g.6713780C= | GRCh38 |
| NC_000019.9:g.6713791C= , CM000681.1:g.6713791C= | GRCh37 |
| NC_000019.8:g.6664791C= | NCBI36 |
| NG_009557.1:g.11872G= , LRG_27:g.11872G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+212G= | ENSP00000512083.1:n.650+212G= | |
| ENST00000245907.11:c.773+212G= MANE Select | ENSP00000245907.4:n.773+212G= | |
| ENST00000245907.10:c.773+212G= | ENSP00000245907.4:n.773+212G= | |
| ENST00000595577.1:n.277+212G= | ||
| ENST00000597442.5:n.9G= | ||
| NM_000064.3:c.773+212G= | NP_000055.2:n.773+212G= | |
| NM_000064.4:c.773+212G= MANE Select | NP_000055.2:n.773+212G= |