HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459761T>C , CM000675.2:g.48459761T>C | GRCh38 |
NC_000013.10:g.49033897T>C , CM000675.1:g.49033897T>C | GRCh37 |
NC_000013.9:g.47931898T>C | NCBI36 |
NG_009009.1:g.161015T>C , LRG_517:g.161015T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2034T>C MANE Select | ENSP00000267163.4:p.His678= | |
ENST00000643064.1:c.194+78318T>C | ||
ENST00000650461.1:c.2034T>C | ENSP00000497193.1:p.His678= | |
ENST00000267163.4:c.2034T>C | ENSP00000267163.4:p.His678= | |
NM_000321.2:c.2034T>C , LRG_517t1:c.2034T>C | NP_000312.2:p.His678= | |
XM_011535171.1:c.1773T>C | XP_011533473.1:p.His591= | |
XM_011535171.2:c.1773T>C | XP_011533473.1:p.His591= | |
NM_000321.3:c.2034T>C MANE Select | NP_000312.2:p.His678= |