Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928573G>A , CM000685.2:g.154928573G>A | GRCh38 |
| NC_000023.10:g.154156848G>A , CM000685.1:g.154156848G>A | GRCh37 |
| NC_000023.9:g.153810042G>A | NCBI36 |
| NG_011403.1:g.99151C>T | |
| NG_011403.2:g.99151C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.5217C>T MANE Select | NP_000123.1:p.Asn1739= |
| ENST00000360256.9:c.5217C>T MANE Select | ENSP00000353393.4:p.Asn1739= |
| NM_000132.3:c.5217C>T | NP_000123.1:p.Asn1739= |
| ENST00000360256.8:c.5217C>T | ENSP00000353393.4:p.Asn1739= |
| XM_011531126.1:c.5112C>T | XP_011529428.1:p.Asn1704= |