Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203171995A>G , CM000663.2:g.203171995A>G | GRCh38 |
| NC_000001.10:g.203141123A>G , CM000663.1:g.203141123A>G | GRCh37 |
| NC_000001.9:g.201407746A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004997.3:c.554T>C MANE Select | NP_004988.2:p.Ile185Thr |
| ENST00000255416.9:c.554T>C MANE Select | ENSP00000255416.4:p.Ile185Thr |
| NM_004997.2:c.554T>C | NP_004988.2:p.Ile185Thr |
| ENST00000255416.8:c.554T>C | ENSP00000255416.4:p.Ile185Thr |
| ENST00000621380.1:c.554T>C | ENSP00000483045.1:p.Ile185Thr |
| XM_005245196.3:c.554T>C | XP_005245253.1:p.Ile185Thr |
| XM_011509572.1:c.68T>C | XP_011507874.1:p.Ile23Thr |