Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716794T>A , CM000667.2:g.14716794T>A | GRCh38 |
| NC_000005.9:g.14716903T>A , CM000667.1:g.14716903T>A | GRCh37 |
| NC_000005.8:g.14769903T>A | NCBI36 |
| NG_008273.1:g.159985A>T | |
| NG_008273.2:g.159992A>T | |
| NG_051625.1:g.61001T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1053A>T MANE Select | ENSP00000284268.6:p.Lys351Asn | |
| ENST00000284268.6:c.1053A>T | ENSP00000284268.6:p.Lys351Asn | |
| ENST00000502585.1:n.295A>T | ||
| NM_054027.4:c.1053A>T | NP_473368.1:p.Lys351Asn | |
| NM_054027.5:c.1053A>T | NP_473368.1:p.Lys351Asn | |
| XM_017009644.2:c.969A>T | XP_016865133.1:p.Lys323Asn | |
| NM_054027.6:c.1053A>T MANE Select | NP_473368.1:p.Lys351Asn |