Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118645T>G , CM000676.2:g.50118645T>G | GRCh38 |
| NC_000014.8:g.50585363T>G , CM000676.1:g.50585363T>G | GRCh37 |
| NC_000014.7:g.49655113T>G | NCBI36 |
| NG_051073.1:g.118049A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3698A>C MANE Select | NP_008870.2:p.Asn1233Thr |
| ENST00000216373.10:c.3698A>C MANE Select | ENSP00000216373.5:p.Asn1233Thr |
| NM_006939.2:c.3698A>C | NP_008870.2:p.Asn1233Thr |
| NM_006939.3:c.3698A>C | NP_008870.2:p.Asn1233Thr |
| ENST00000216373.9:c.3698A>C | ENSP00000216373.5:p.Asn1233Thr |
| ENST00000543680.5:c.3599A>C | ENSP00000445328.1:p.Asn1200Thr |
| XM_005268021.1:c.3518A>C | XP_005268078.1:p.Asn1173Thr |
| XM_011537103.1:c.3659A>C | XP_011535405.1:p.Asn1220Thr |