Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716592C= , CM000667.2:g.14716592C= | GRCh38 |
| NC_000005.9:g.14716701C= , CM000667.1:g.14716701C= | GRCh37 |
| NC_000005.8:g.14769701C= | NCBI36 |
| NG_008273.1:g.160187G= | |
| NG_008273.2:g.160194G= | |
| NG_051625.1:g.60799C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1141+114G= MANE Select | ENSP00000284268.6:n.1141+114G= | |
| ENST00000284268.6:c.1141+114G= | ENSP00000284268.6:n.1141+114G= | |
| ENST00000502585.1:n.383+114G= | ||
| NM_054027.4:c.1141+114G= | NP_473368.1:n.1141+114G= | |
| NM_054027.5:c.1141+114G= | NP_473368.1:n.1141+114G= | |
| XM_017009644.2:c.1057+114G= | XP_016865133.1:n.1057+114G= | |
| NM_054027.6:c.1141+114G= MANE Select | NP_473368.1:n.1141+114G= |