HGVS | Genome Assembly |
---|---|
NC_000001.11:g.159713648C>G , CM000663.2:g.159713648C>G | GRCh38 |
NC_000001.10:g.159683438C>G , CM000663.1:g.159683438C>G | GRCh37 |
NC_000001.9:g.157950062C>G | NCBI36 |
NG_013007.1:g.5942G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000255030.9:c.552G>C MANE Select | ENSP00000255030.5:p.Leu184= | |
ENST00000368110.1:c.194-8G>C | ENSP00000357091.1:n.194-8G>C | |
ENST00000368111.5:c.194-8G>C | ENSP00000357092.1:n.194-8G>C | |
ENST00000368112.5:c.198-45G>C | ENSP00000357093.1:n.198-45G>C | |
ENST00000437342.1:c.18G>C | ENSP00000402788.1:p.Leu6= | |
ENST00000473196.1:n.120G>C | ||
ENST00000489317.1:n.74+359G>C | ||
NM_000567.2:c.552G>C | NP_000558.2:p.Leu184= | |
XM_011509207.1:c.552G>C | XP_011507509.1:p.Leu184= | |
NM_001329057.1:c.552G>C | NP_001315986.1:p.Leu184= | |
NM_001329058.1:c.198-45G>C | NP_001315987.1:n.198-45G>C | |
NM_000567.3:c.552G>C MANE Select | NP_000558.2:p.Leu184= | |
NM_001329057.2:c.552G>C | NP_001315986.1:p.Leu184= | |
NM_001329058.2:c.198-45G>C | NP_001315987.1:n.198-45G>C | |
NM_001382703.1:c.194-8G>C | NP_001369632.1:n.194-8G>C |