HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128301306G>T , CM000667.2:g.128301306G>T | GRCh38 |
NC_000005.9:g.127636998G>T , CM000667.1:g.127636998G>T | GRCh37 |
NC_000005.8:g.127664897G>T | NCBI36 |
NG_008750.1:g.241738C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2830+76C>A | ||
ENST00000703785.1:n.2749+76C>A | ||
ENST00000262464.9:c.6046+76C>A MANE Select | ENSP00000262464.4:n.6046+76C>A | |
ENST00000262464.8:c.6046+76C>A | ENSP00000262464.4:n.6046+76C>A | |
ENST00000508053.5:c.6046+76C>A | ENSP00000424571.1:n.6046+76C>A | |
ENST00000619499.4:c.6043+76C>A | ENSP00000482132.1:n.6043+76C>A | |
NM_001999.3:c.6046+76C>A | NP_001990.2:n.6046+76C>A | |
XM_017009228.2:c.5893+76C>A | XP_016864717.1:n.5893+76C>A | |
NM_001999.4:c.6046+76C>A MANE Select | NP_001990.2:n.6046+76C>A |