HGVS | Genome Assembly |
---|---|
NC_000002.12:g.61378453T>G , CM000664.2:g.61378453T>G | GRCh38 |
NC_000002.11:g.61605588T>G , CM000664.1:g.61605588T>G | GRCh37 |
NC_000002.10:g.61459092T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398571.7:c.1015-29A>C MANE Select | ENSP00000381577.2:n.1015-29A>C | |
ENST00000398571.6:c.1015-29A>C | ENSP00000381577.2:n.1015-29A>C | |
ENST00000453133.1:c.541-29A>C | ||
NM_014709.3:c.1015-29A>C | NP_055524.3:n.1015-29A>C | |
NM_014709.4:c.1015-29A>C MANE Select | NP_055524.3:n.1015-29A>C |