HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39244283A>G , CM000681.2:g.39244283A>G | GRCh38 |
NC_000019.9:g.39734923A>G , CM000681.1:g.39734923A>G | GRCh37 |
NC_000019.8:g.44426763A>G | NCBI36 |
NG_042193.1:g.5689T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000613087.5:c.271-126T>C | ENSP00000481633.1:n.271-126T>C | |
ENST00000413851.3:c.259-126T>C MANE Select | ENSP00000409000.2:n.259-126T>C | |
ENST00000413851.2:c.259-126T>C | ENSP00000409000.2:n.259-126T>C | |
ENST00000613087.4:c.271-126T>C | ENSP00000481633.1:n.271-126T>C | |
NM_172139.2:c.259-126T>C | NP_742151.2:n.259-126T>C | |
XM_005258765.3:c.271-126T>C | XP_005258822.1:n.271-126T>C | |
XM_011526757.1:c.271-126T>C | XP_011525059.1:n.271-126T>C | |
NM_001346937.1:c.271-126T>C | NP_001333866.1:n.271-126T>C | |
NM_172139.3:c.259-126T>C | NP_742151.2:n.259-126T>C | |
NM_172139.4:c.259-126T>C MANE Select | NP_742151.2:n.259-126T>C | |
NM_001346937.2:c.271-126T>C | NP_001333866.1:n.271-126T>C |