Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.14131700C>T , CM000668.2:g.14131700C>T | GRCh38 |
| NC_000006.11:g.14131931C>T , CM000668.1:g.14131931C>T | GRCh37 |
| NC_000006.10:g.14239910C>T | NCBI36 |
| NG_030372.1:g.19445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379153.4:c.334C>T MANE Select | ENSP00000368450.3:p.Pro112Ser | |
| ENST00000379153.3:c.334C>T | ENSP00000368450.3:p.Pro112Ser | |
| ENST00000612003.4:c.157C>T | ENSP00000480760.1:p.Pro53Ser | |
| NM_001040280.1:c.334C>T | NP_001035370.1:p.Pro112Ser | |
| NM_001251901.1:c.157C>T | NP_001238830.1:p.Pro53Ser | |
| NM_004233.3:c.334C>T | NP_004224.1:p.Pro112Ser | |
| NM_004233.4:c.334C>T MANE Select | NP_004224.1:p.Pro112Ser | |
| NM_001040280.2:c.334C>T | NP_001035370.1:p.Pro112Ser | |
| NM_001040280.3:c.334C>T | NP_001035370.1:p.Pro112Ser |