Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714208G>A , CM000681.2:g.6714208G>A | GRCh38 |
| NC_000019.9:g.6714219G>A , CM000681.1:g.6714219G>A | GRCh37 |
| NC_000019.8:g.6665219G>A | NCBI36 |
| NG_009557.1:g.11444C>T , LRG_27:g.11444C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.640C>T MANE Select | NP_000055.2:p.Pro214Ser |
| ENST00000245907.11:c.640C>T MANE Select | ENSP00000245907.4:p.Pro214Ser |
| NM_000064.3:c.640C>T | NP_000055.2:p.Pro214Ser |
| ENST00000245907.10:c.640C>T | ENSP00000245907.4:p.Pro214Ser |
| ENST00000595577.1:n.144C>T | |
| ENST00000695652.1:c.517C>T | ENSP00000512083.1:p.Pro173Ser |