HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75005849T>C , CM000676.2:g.75005849T>C | GRCh38 |
NC_000014.8:g.75472552T>C , CM000676.1:g.75472552T>C | GRCh37 |
NC_000014.7:g.74542305T>C | NCBI36 |
NG_013333.1:g.7941T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000266126.10:c.598-17T>C MANE Select | ENSP00000266126.5:n.598-17T>C | |
ENST00000266126.9:c.598-17T>C | ENSP00000266126.5:n.598-17T>C | |
ENST00000553401.5:c.579T>C | ENSP00000451681.1:p.Pro193= | |
ENST00000556028.5:c.598-48T>C | ENSP00000452311.1:n.598-48T>C | |
NM_014239.3:c.598-17T>C | NP_055054.1:n.598-17T>C | |
NM_014239.4:c.598-17T>C MANE Select | NP_055054.1:n.598-17T>C |