HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154965878G>C , CM000685.2:g.154965878G>C | GRCh38 |
NC_000023.10:g.154194153G>C , CM000685.1:g.154194153G>C | GRCh37 |
NC_000023.9:g.153847347G>C | NCBI36 |
NG_011403.1:g.61846C>G | |
NG_011403.2:g.61846C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1443+92C>G MANE Select | ENSP00000353393.4:n.1443+92C>G | |
ENST00000647125.1:c.*1319+92C>G | ENSP00000496062.1:n.*1319+92C>G | |
ENST00000360256.8:c.1443+92C>G | ENSP00000353393.4:n.1443+92C>G | |
ENST00000483822.2:n.355C>G | ||
NM_000132.3:c.1443+92C>G | NP_000123.1:n.1443+92C>G | |
XM_011531126.1:c.1338+92C>G | XP_011529428.1:n.1338+92C>G | |
NM_000132.4:c.1443+92C>G MANE Select | NP_000123.1:n.1443+92C>G |