HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663129T>C , CM000676.2:g.36663129T>C | GRCh38 |
NC_000014.8:g.37132334T>C , CM000676.1:g.37132334T>C | GRCh37 |
NC_000014.7:g.36202085T>C | NCBI36 |
NG_013357.1:g.10562T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361487.7:c.237T>C MANE Select | ENSP00000355245.6:p.Thr79= | |
ENST00000555639.2:c.237T>C | ENSP00000501203.1:p.Thr79= | |
ENST00000361487.6:c.237T>C | ENSP00000355245.6:p.Thr79= | |
ENST00000402703.6:c.237T>C | ENSP00000384817.2:p.Thr79= | |
ENST00000554201.1:c.-325T>C | ENSP00000450434.1:n.-325T>C | |
ENST00000555639.1:n.539T>C | ||
NM_006194.3:c.237T>C | NP_006185.1:p.Thr79= | |
NM_001372076.1:c.237T>C MANE Select | NP_001359005.1:p.Thr79= | |
NM_006194.4:c.237T>C | NP_006185.1:p.Thr79= |