Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151251466A>G , CM000664.2:g.151251466A>G | GRCh38 |
| NC_000002.11:g.152107980A>G , CM000664.1:g.152107980A>G | GRCh37 |
| NC_000002.10:g.151816226A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331426.6:c.514T>C MANE Select | ENSP00000331211.5:p.Ser172Pro | |
| ENST00000331426.5:c.514T>C | ENSP00000331211.5:p.Ser172Pro | |
| NM_198557.2:c.514T>C | NP_940959.1:p.Ser172Pro | |
| XM_011511146.1:c.523T>C | XP_011509448.1:p.Ser175Pro | |
| NM_198557.3:c.514T>C MANE Select | NP_940959.1:p.Ser172Pro |