HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177434340T>C , CM000666.2:g.177434340T>C | GRCh38 |
NC_000004.11:g.178355494T>C , CM000666.1:g.178355494T>C | GRCh37 |
NC_000004.10:g.178592488T>C | NCBI36 |
NG_011845.2:g.13164A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264595.7:c.806+42A>G MANE Select | ENSP00000264595.2:n.806+42A>G | |
ENST00000264595.6:c.806+42A>G | ENSP00000264595.2:n.806+42A>G | |
ENST00000502310.5:c.377+42A>G | ENSP00000423798.1:n.377+42A>G | |
NM_000027.3:c.806+42A>G | NP_000018.2:n.806+42A>G | |
NM_001171988.1:c.776+42A>G | NP_001165459.1:n.776+42A>G | |
NR_033655.1:n.858+42A>G | ||
XR_001741155.2:n.878+42A>G | ||
NM_000027.4:c.806+42A>G MANE Select | NP_000018.2:n.806+42A>G | |
NM_001171988.2:c.776+42A>G | NP_001165459.1:n.776+42A>G | |
NR_033655.2:n.792+42A>G |