HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541905T>G , CM000671.2:g.98541905T>G | GRCh38 |
NC_000009.11:g.101304187T>G , CM000671.1:g.101304187T>G | GRCh37 |
NC_000009.10:g.100344008T>G | NCBI36 |
NG_016426.1:g.172293A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.598A>C MANE Select | ENSP00000259455.2:p.Thr200Pro | |
ENST00000637410.1:n.376A>C | ||
ENST00000637717.1:c.214A>C | ENSP00000490789.1:p.Thr72Pro | |
ENST00000259455.3:c.598A>C | ENSP00000259455.2:p.Thr200Pro | |
ENST00000477471.1:n.385A>C | ||
ENST00000634227.1:n.372A>C | ||
NM_005458.7:c.598A>C | NP_005449.5:p.Thr200Pro | |
XM_017015331.2:c.304A>C | XP_016870820.1:p.Thr102Pro | |
NM_005458.8:c.598A>C MANE Select | NP_005449.5:p.Thr200Pro |