HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24204605G>T , CM000668.2:g.24204605G>T | GRCh38 |
NC_000006.11:g.24204833G>T , CM000668.1:g.24204833G>T | GRCh37 |
NC_000006.10:g.24312812G>T | NCBI36 |
NG_012829.1:g.158448C>A | |
NG_012829.2:g.183688C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.1023+397C>A MANE Select | ENSP00000367715.3:n.1023+397C>A | |
ENST00000378450.6:c.282+397C>A | ENSP00000367711.3:n.282+397C>A | |
ENST00000378454.7:c.1023+397C>A | ENSP00000367715.3:n.1023+397C>A | |
NM_001195610.1:c.1023+397C>A | NP_001182539.1:n.1023+397C>A | |
NM_016356.4:c.1023+397C>A | NP_057440.2:n.1023+397C>A | |
NM_016356.5:c.1023+397C>A MANE Select | NP_057440.2:n.1023+397C>A | |
NM_001195610.2:c.1023+397C>A | NP_001182539.1:n.1023+397C>A |