Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310932A>G , CM000663.2:g.152310932A>G | GRCh38 |
| NC_000001.10:g.152283408A>G , CM000663.1:g.152283408A>G | GRCh37 |
| NC_000001.9:g.150550032A>G | NCBI36 |
| NG_016190.1:g.19272T>C , LRG_1028:g.19272T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3954T>C MANE Select | ENSP00000357789.1:p.Ser1318= | |
| ENST00000368799.1:c.3954T>C | ENSP00000357789.1:p.Ser1318= | |
| NM_002016.1:c.3954T>C , LRG_1028t1:c.3954T>C | NP_002007.1:p.Ser1318= | |
| XM_011509329.1:c.3954T>C | XP_011507631.1:p.Ser1318= | |
| NM_002016.2:c.3954T>C MANE Select | NP_002007.1:p.Ser1318= |