HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818841A>C , CM000671.2:g.129818841A>C | GRCh38 |
NC_000009.11:g.132581120A>C , CM000671.1:g.132581120A>C | GRCh37 |
NC_000009.10:g.131620941A>C | NCBI36 |
NG_008049.1:g.10322T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.524T>G MANE Select | ENSP00000345719.4:p.Met175Arg | |
ENST00000651202.1:c.620T>G | ENSP00000498222.1:p.Met207Arg | |
ENST00000351698.4:c.524T>G | ENSP00000345719.4:p.Met175Arg | |
ENST00000473604.2:n.634T>G | ||
NM_000113.2:c.524T>G | NP_000104.1:p.Met175Arg | |
XR_929731.1:n.684T>G | ||
XR_929731.3:n.552T>G | ||
NM_000113.3:c.524T>G MANE Select | NP_000104.1:p.Met175Arg |