Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.131462785G>A , CM000665.2:g.131462785G>A | GRCh38 |
| NC_000003.11:g.131181629G>A , CM000665.1:g.131181629G>A | GRCh37 |
| NC_000003.10:g.132664319G>A | NCBI36 |
| NG_029207.1:g.45232C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007208.4:c.985C>T MANE Select | NP_009139.1:p.Pro329Ser |
| ENST00000264995.8:c.985C>T MANE Select | ENSP00000264995.2:p.Pro329Ser |
| NM_007208.3:c.985C>T | NP_009139.1:p.Pro329Ser |
| ENST00000264995.7:c.985C>T | ENSP00000264995.2:p.Pro329Ser |
| ENST00000425847.6:c.1066C>T | ENSP00000398536.2:p.Pro356Ser |
| ENST00000510043.1:n.409C>T | |
| ENST00000511168.5:c.1028C>T |