HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7933871G>A , CM000681.2:g.7933871G>A | GRCh38 |
NC_000019.9:g.7998756G>A , CM000681.1:g.7998756G>A | GRCh37 |
NC_000019.8:g.7904756G>A | NCBI36 |
NG_051180.1:g.14953C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270538.8:c.676C>T MANE Select | ENSP00000270538.2:p.Pro226Ser | |
ENST00000270538.7:c.676C>T | ENSP00000270538.2:p.Pro226Ser | |
ENST00000595831.5:c.663C>T | ||
ENST00000595876.5:c.*364C>T | ENSP00000471596.1:n.*364C>T | |
ENST00000597926.1:c.580C>T | ENSP00000469389.1:p.Pro194Ser | |
ENST00000598675.1:n.82C>T | ||
ENST00000600748.5:n.661C>T | ||
NM_006351.3:c.676C>T | NP_006342.2:p.Pro226Ser | |
NM_006351.4:c.676C>T MANE Select | NP_006342.2:p.Pro226Ser |