Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716780A>T , CM000667.2:g.14716780A>T | GRCh38 |
| NC_000005.9:g.14716889A>T , CM000667.1:g.14716889A>T | GRCh37 |
| NC_000005.8:g.14769889A>T | NCBI36 |
| NG_008273.1:g.159999T>A | |
| NG_008273.2:g.160006T>A | |
| NG_051625.1:g.60987A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1067T>A MANE Select | ENSP00000284268.6:p.Ile356Asn | |
| ENST00000284268.6:c.1067T>A | ENSP00000284268.6:p.Ile356Asn | |
| ENST00000502585.1:n.309T>A | ||
| NM_054027.4:c.1067T>A | NP_473368.1:p.Ile356Asn | |
| NM_054027.5:c.1067T>A | NP_473368.1:p.Ile356Asn | |
| XM_017009644.2:c.983T>A | XP_016865133.1:p.Ile328Asn | |
| NM_054027.6:c.1067T>A MANE Select | NP_473368.1:p.Ile356Asn |