HGVS | Genome Assembly |
---|---|
NC_000006.12:g.87667331T>C , CM000668.2:g.87667331T>C | GRCh38 |
NC_000006.11:g.88377049T>C , CM000668.1:g.88377049T>C | GRCh37 |
NC_000006.10:g.88433768T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392844.8:c.*208T>C MANE Select | ENSP00000376586.3:n.*208T>C | |
ENST00000257789.4:c.*208T>C | ENSP00000257789.4:n.*208T>C | |
ENST00000392844.7:c.*208T>C | ENSP00000376586.3:n.*208T>C | |
ENST00000546266.5:c.*208T>C | ENSP00000444695.1:n.*208T>C | |
NM_001197259.1:c.*208T>C | NP_001184188.1:n.*208T>C | |
NM_012381.3:c.*208T>C | NP_036513.2:n.*208T>C | |
NM_181837.2:c.*208T>C | NP_862820.1:n.*208T>C | |
XM_005248704.1:c.*299T>C | XP_005248761.1:n.*299T>C | |
XM_005248705.1:c.*208T>C | XP_005248762.1:n.*208T>C | |
XM_005248706.1:c.*208T>C | XP_005248763.1:n.*208T>C | |
XM_011535651.1:c.*208T>C | XP_011533953.1:n.*208T>C | |
XM_005248704.2:c.*299T>C | XP_005248761.1:n.*299T>C | |
XM_005248705.2:c.*208T>C | XP_005248762.1:n.*208T>C | |
XM_011535651.2:c.*208T>C | XP_011533953.1:n.*208T>C | |
XM_017010632.2:c.2033+1498T>C | XP_016866121.1:n.2033+1498T>C | |
XM_017010633.2:c.2030+1498T>C | XP_016866122.1:n.2030+1498T>C | |
XM_017010634.2:c.*299T>C | XP_016866123.1:n.*299T>C | |
XM_017010635.2:c.*208T>C | XP_016866124.1:n.*208T>C | |
XM_017010636.2:c.*208T>C | XP_016866125.1:n.*208T>C | |
XM_017010637.1:c.*208T>C | XP_016866126.1:n.*208T>C | |
XM_017010638.2:c.*299T>C | XP_016866127.1:n.*299T>C | |
XM_017010639.1:c.*299T>C | XP_016866128.1:n.*299T>C | |
XM_017010640.1:c.*208T>C | XP_016866129.1:n.*208T>C | |
XR_001743294.2:n.2441T>C | ||
XR_001743295.2:n.2438T>C | ||
NM_001197259.2:c.*208T>C | NP_001184188.1:n.*208T>C | |
NM_012381.4:c.*208T>C MANE Select | NP_036513.2:n.*208T>C | |
NM_181837.3:c.*208T>C | NP_862820.1:n.*208T>C |