Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.32020077A= , CM000672.2:g.32020077A= | GRCh38 |
| NC_000010.10:g.32309005A= , CM000672.1:g.32309005A= | GRCh37 |
| NC_000010.9:g.32349011A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302418.5:c.2205-118T= MANE Select | ENSP00000307078.4:n.2205-118T= | |
| ENST00000302418.4:c.2205-118T= | ENSP00000307078.4:n.2205-118T= | |
| ENST00000493889.1:n.74-118T= | ||
| NM_004521.2:c.2205-118T= | NP_004512.1:n.2205-118T= | |
| XM_017016224.2:c.1923-118T= | XP_016871713.1:n.1923-118T= | |
| NM_004521.3:c.2205-118T= MANE Select | NP_004512.1:n.2205-118T= |