Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14178939C>T , CM000665.2:g.14178939C>T | GRCh38 |
| NC_000003.11:g.14220439C>T , CM000665.1:g.14220439C>T | GRCh37 |
| NC_000003.10:g.14195443C>T | NCBI36 |
| NG_011763.1:g.4734G>A , LRG_472:g.4734G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014463.3:c.21+58C>T MANE Select | NP_055278.1:n.21+58C>T |
| ENST00000306024.4:c.21+58C>T MANE Select | ENSP00000302160.3:n.21+58C>T |
| NM_014463.2:c.21+58C>T | NP_055278.1:n.21+58C>T |
| ENST00000306024.3:c.21+58C>T | ENSP00000302160.3:n.21+58C>T |