Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107698092G>A , CM000669.2:g.107698092G>A | GRCh38 |
| NC_000007.13:g.107338537G>A , CM000669.1:g.107338537G>A | GRCh37 |
| NC_000007.12:g.107125773G>A | NCBI36 |
| NG_008489.1:g.42458G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.1595G>A MANE Select | NP_000432.1:p.Ser532Asn |
| ENST00000644269.2:c.1595G>A MANE Select | ENSP00000494017.1:p.Ser532Asn |
| NM_000441.1:c.1595G>A | NP_000432.1:p.Ser532Asn |
| ENST00000265715.7:c.1595G>A | ENSP00000265715.3:p.Ser532Asn |
| ENST00000477350.5:n.442G>A | |
| ENST00000480841.5:n.444G>A | |
| ENST00000644846.1:c.306G>A | |
| XM_005250425.1:c.1595G>A | XP_005250482.1:p.Ser532Asn |
| XM_005250425.2:c.1595G>A | XP_005250482.1:p.Ser532Asn |
| XM_017012318.1:c.1517G>A | XP_016867807.1:p.Ser506Asn |