Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.29208159C>G , CM000681.2:g.29208159C>G | GRCh38 |
| NC_000019.9:g.29699066C>G , CM000681.1:g.29699066C>G | GRCh37 |
| NC_000019.8:g.34390906C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006003.3:c.215-1G>C MANE Select | NP_005994.2:n.215-1G>C |
| ENST00000304863.6:c.215-1G>C MANE Select | ENSP00000306397.3:n.215-1G>C |
| NM_006003.2:c.215-1G>C | NP_005994.2:n.215-1G>C |
| ENST00000304863.5:c.215-1G>C | ENSP00000306397.3:n.215-1G>C |