HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774252A>G , CM000683.2:g.43774252A>G | GRCh38 |
NC_000021.8:g.45194133A>G , CM000683.1:g.45194133A>G | GRCh37 |
NC_000021.7:g.44018561A>G | NCBI36 |
NG_011545.1:g.7127T>C , LRG_485:g.7127T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.247T>C MANE Select | ENSP00000291568.6:p.Ser83Pro | |
ENST00000480147.3:n.2017T>C | ||
ENST00000639959.1:c.114T>C | ||
ENST00000640406.1:c.*322T>C | ENSP00000492672.1:n.*322T>C | |
ENST00000675996.1:n.672T>C | ||
ENST00000291568.5:c.247T>C | ENSP00000291568.5:p.Ser83Pro | |
ENST00000480147.1:n.611T>C | ||
NM_000100.3:c.247T>C , LRG_485t1:c.247T>C | NP_000091.1:p.Ser83Pro | |
NM_000100.4:c.247T>C MANE Select | NP_000091.1:p.Ser83Pro |