HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31588932A>G , CM000668.2:g.31588932A>G | GRCh38 |
NC_000006.11:g.31556709A>G , CM000668.1:g.31556709A>G | GRCh37 |
NC_000006.10:g.31664688A>G | NCBI36 |
NG_021176.1:g.9054T>C | |
NG_030378.1:g.7754A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340027.10:c.*135T>C MANE Select | ENSP00000342156.5:n.*135T>C | |
ENST00000340027.9:c.*135T>C | ENSP00000342156.5:n.*135T>C | |
ENST00000376073.8:c.*262T>C | ENSP00000365241.4:n.*262T>C | |
ENST00000491161.1:n.856T>C | ||
ENST00000495600.5:n.548T>C | ||
NM_001145466.1:c.*262T>C | NP_001138938.1:n.*262T>C | |
NM_147130.2:c.*135T>C | NP_667341.1:n.*135T>C | |
XM_006715049.2:c.*135T>C | XP_006715112.1:n.*135T>C | |
XM_011514459.1:c.*135T>C | XP_011512761.1:n.*135T>C | |
XM_006715049.3:c.*135T>C | XP_006715112.1:n.*135T>C | |
XM_011514459.2:c.*135T>C | XP_011512761.1:n.*135T>C | |
NM_147130.3:c.*135T>C MANE Select | NP_667341.1:n.*135T>C | |
NM_001145466.2:c.*262T>C | NP_001138938.1:n.*262T>C |