HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818760A>T , CM000671.2:g.129818760A>T | GRCh38 |
NC_000009.11:g.132581039A>T , CM000671.1:g.132581039A>T | GRCh37 |
NC_000009.10:g.131620860A>T | NCBI36 |
NG_008049.1:g.10403T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.605T>A MANE Select | ENSP00000345719.4:p.Met202Lys | |
ENST00000651202.1:c.701T>A | ENSP00000498222.1:p.Met234Lys | |
ENST00000351698.4:c.605T>A | ENSP00000345719.4:p.Met202Lys | |
ENST00000473604.2:n.715T>A | ||
ENST00000474192.1:n.22T>A | ||
NM_000113.2:c.605T>A | NP_000104.1:p.Met202Lys | |
XR_929731.1:n.765T>A | ||
XR_929731.3:n.633T>A | ||
NM_000113.3:c.605T>A MANE Select | NP_000104.1:p.Met202Lys |