HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75003472T>C , CM000676.2:g.75003472T>C | GRCh38 |
NC_000014.8:g.75470175T>C , CM000676.1:g.75470175T>C | GRCh37 |
NC_000014.7:g.74539928T>C | NCBI36 |
NG_013333.1:g.5564T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266126.10:c.284+77T>C MANE Select | ENSP00000266126.5:n.284+77T>C | |
ENST00000266126.9:c.284+77T>C | ENSP00000266126.5:n.284+77T>C | |
ENST00000553401.5:c.257+77T>C | ENSP00000451681.1:n.257+77T>C | |
ENST00000553539.1:n.501T>C | ||
ENST00000555522.1:n.342+77T>C | ||
ENST00000556028.5:c.284+77T>C | ENSP00000452311.1:n.284+77T>C | |
NM_014239.3:c.284+77T>C | NP_055054.1:n.284+77T>C | |
NM_014239.4:c.284+77T>C MANE Select | NP_055054.1:n.284+77T>C |