Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33668981C>T , CM000668.2:g.33668981C>T | GRCh38 |
| NC_000006.11:g.33636758C>T , CM000668.1:g.33636758C>T | GRCh37 |
| NC_000006.10:g.33744736C>T | NCBI36 |
| NG_027729.1:g.52603C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2014C>T MANE Select | ENSP00000475177.1:p.Pro672Ser | |
| ENST00000374316.9:c.2014C>T | ENSP00000363435.4:p.Pro672Ser | |
| ENST00000605930.2:c.2014C>T | ENSP00000475177.1:p.Pro672Ser | |
| NM_002224.3:c.2014C>T | NP_002215.2:p.Pro672Ser | |
| XM_011514576.1:c.2083C>T | XP_011512878.1:p.Pro695Ser | |
| XM_011514577.1:c.1831C>T | XP_011512879.1:p.Pro611Ser | |
| XM_011514577.3:c.1831C>T | XP_011512879.1:p.Pro611Ser | |
| XM_017010832.1:c.2014C>T | XP_016866321.1:p.Pro672Ser | |
| NM_002224.4:c.2014C>T MANE Select | NP_002215.2:p.Pro672Ser |