HGVS | Genome Assembly |
---|---|
NC_000015.10:g.32028718T>G , CM000677.2:g.32028718T>G | GRCh38 |
NC_000015.9:g.32320921T>G , CM000677.1:g.32320921T>G | GRCh37 |
NC_000015.8:g.30108213T>G | NCBI36 |
NG_009216.1:g.3196T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000635978.1:c.-42-72585T>G | ENSP00000490778.1:n.-42-72585T>G | |
ENST00000636603.1:c.-131-2180T>G | ENSP00000490513.1:n.-131-2180T>G | |
ENST00000637183.1:c.-43+50524T>G | ENSP00000490365.1:n.-43+50524T>G | |
ENST00000638106.1:c.-378-2180T>G | ENSP00000490413.1:n.-378-2180T>G | |
XM_011522320.1:c.573-111A>C | XP_011520622.1:n.573-111A>C | |
XM_011522320.2:c.573-111A>C | XP_011520622.1:n.573-111A>C |