HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818759C>T , CM000671.2:g.129818759C>T | GRCh38 |
NC_000009.11:g.132581038C>T , CM000671.1:g.132581038C>T | GRCh37 |
NC_000009.10:g.131620859C>T | NCBI36 |
NG_008049.1:g.10404G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.606G>A MANE Select | ENSP00000345719.4:p.Met202Ile | |
ENST00000651202.1:c.702G>A | ENSP00000498222.1:p.Met234Ile | |
ENST00000351698.4:c.606G>A | ENSP00000345719.4:p.Met202Ile | |
ENST00000473604.2:n.716G>A | ||
ENST00000474192.1:n.23G>A | ||
NM_000113.2:c.606G>A | NP_000104.1:p.Met202Ile | |
XR_929731.1:n.766G>A | ||
XR_929731.3:n.634G>A | ||
NM_000113.3:c.606G>A MANE Select | NP_000104.1:p.Met202Ile |