HGVS | Genome Assembly |
---|---|
NC_000009.12:g.20475178T>C , CM000671.2:g.20475178T>C | GRCh38 |
NC_000009.11:g.20475176T>C , CM000671.1:g.20475176T>C | GRCh37 |
NC_000009.10:g.20465176T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380338.9:c.194-18392A>G MANE Select | ENSP00000369695.4:n.194-18392A>G | |
ENST00000380338.8:c.194-18392A>G | ENSP00000369695.4:n.194-18392A>G | |
ENST00000475957.1:n.378-60753A>G | ||
ENST00000629733.2:c.-1025-18392A>G | ENSP00000486193.1:n.-1025-18392A>G | |
ENST00000630269.2:c.185-18392A>G | ENSP00000485996.1:n.185-18392A>G | |
NM_001286691.1:c.185-18392A>G | NP_001273620.1:n.185-18392A>G | |
NM_004529.3:c.194-18392A>G | NP_004520.2:n.194-18392A>G | |
XM_017014726.2:c.194-18392A>G | XP_016870215.1:n.194-18392A>G | |
XM_017014727.1:c.185-18392A>G | XP_016870216.1:n.185-18392A>G | |
NM_004529.4:c.194-18392A>G MANE Select | NP_004520.2:n.194-18392A>G | |
NM_001286691.2:c.185-18392A>G | NP_001273620.1:n.185-18392A>G |