HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216182737G>T , CM000664.2:g.216182737G>T | GRCh38 |
NC_000002.11:g.217047460G>T , CM000664.1:g.217047460G>T | GRCh37 |
NC_000002.10:g.216755705G>T | NCBI36 |
NG_029780.1:g.78441G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392132.7:c.1835-7488G>T MANE Select | ENSP00000375977.2:n.1835-7488G>T | |
ENST00000392132.6:c.1835-7488G>T | ENSP00000375977.2:n.1835-7488G>T | |
ENST00000392133.7:c.1835-7488G>T | ENSP00000375978.3:n.1835-7488G>T | |
ENST00000460284.5:n.2377-7488G>T | ||
NM_021141.3:c.1835-7488G>T | NP_066964.1:n.1835-7488G>T | |
NM_021141.4:c.1835-7488G>T MANE Select | NP_066964.1:n.1835-7488G>T |