HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863040C>A , CM000685.2:g.154863040C>A | GRCh38 |
NC_000023.10:g.154091315C>A , CM000685.1:g.154091315C>A | GRCh37 |
NC_000023.9:g.153744509C>A | NCBI36 |
NG_011403.1:g.164684G>T | |
NG_011403.2:g.164684G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.6574+43G>T MANE Select | ENSP00000353393.4:n.6574+43G>T | |
ENST00000644698.1:c.307+43G>T | ENSP00000495706.1:n.307+43G>T | |
ENST00000330287.10:c.169+43G>T | ENSP00000327895.6:n.169+43G>T | |
ENST00000360256.8:c.6574+43G>T | ENSP00000353393.4:n.6574+43G>T | |
NM_000132.3:c.6574+43G>T | NP_000123.1:n.6574+43G>T | |
NM_019863.2:c.169+43G>T | NP_063916.1:n.169+43G>T | |
XM_011531126.1:c.6469+43G>T | XP_011529428.1:n.6469+43G>T | |
NM_000132.4:c.6574+43G>T MANE Select | NP_000123.1:n.6574+43G>T | |
NM_019863.3:c.169+43G>T | NP_063916.1:n.169+43G>T |