HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119285T>G , CM000667.2:g.111119285T>G | GRCh38 |
NC_000005.9:g.110454983T>G , CM000667.1:g.110454983T>G | GRCh37 |
NC_000005.8:g.110482882T>G | NCBI36 |
NG_008979.1:g.32114T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.1904+165T>G MANE Select | ENSP00000424628.3:n.1904+165T>G | |
ENST00000506538.6:c.2072+165T>G | ENSP00000423067.2:n.2072+165T>G | |
ENST00000513710.3:c.1904+165T>G | ENSP00000424628.3:n.1904+165T>G | |
ENST00000612402.4:c.2072+165T>G | ENSP00000479950.1:n.2072+165T>G | |
NM_139281.2:c.2072+165T>G | NP_644810.1:n.2072+165T>G | |
XM_011543163.1:c.2072+165T>G | XP_011541465.1:n.2072+165T>G | |
NM_139281.3:c.1904+165T>G MANE Select | NP_644810.2:n.1904+165T>G |