HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99208528C>T , CM000666.2:g.99208528C>T | GRCh38 |
NC_000004.11:g.100129685C>T , CM000666.1:g.100129685C>T | GRCh37 |
NC_000004.10:g.100348708C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237653.11:c.828+140G>A | ENSP00000237653.7:n.828+140G>A | |
ENST00000394897.5:c.828+140G>A | ENSP00000378358.1:n.828+140G>A | |
ENST00000394899.6:c.828+140G>A MANE Select | ENSP00000378359.2:n.828+140G>A | |
ENST00000504257.1:n.611G>A | ||
ENST00000507484.5:c.*292+140G>A | ENSP00000425275.1:n.*292+140G>A | |
ENST00000508558.1:c.636+140G>A | ENSP00000426187.1:n.636+140G>A | |
ENST00000512708.5:c.147+140G>A | ENSP00000422124.1:n.147+140G>A | |
NM_000672.3:c.828+140G>A | NP_000663.1:n.828+140G>A | |
NM_001102470.1:c.828+140G>A | NP_001095940.1:n.828+140G>A | |
NR_037884.1:n.3789+4097C>T | ||
NR_132990.1:n.563+140G>A | ||
XM_005262731.2:c.828+140G>A | XP_005262788.2:n.828+140G>A | |
XR_244619.2:n.919+140G>A | ||
NM_001102470.2:c.828+140G>A MANE Select | NP_001095940.1:n.828+140G>A | |
NM_000672.4:c.828+140G>A | NP_000663.1:n.828+140G>A | |
NR_132990.2:n.563+140G>A |