HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80617834T>C , CM000672.2:g.80617834T>C | GRCh38 |
NC_000010.10:g.82377590T>C , CM000672.1:g.82377590T>C | GRCh37 |
NC_000010.9:g.82367570T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646907.2:c.988+8283T>C MANE Select | ENSP00000494732.1:n.988+8283T>C | |
ENST00000646907.1:c.988+8283T>C | ENSP00000494732.1:n.988+8283T>C | |
ENST00000313455.5:c.841+8283T>C | ENSP00000314242.4:n.841+8283T>C | |
ENST00000339284.6:c.985+8283T>C | ENSP00000345295.2:n.985+8283T>C | |
ENST00000372150.7:n.330+8283T>C | ||
NM_001145719.1:c.841+8283T>C | NP_001139191.1:n.841+8283T>C | |
NM_207372.2:c.985+8283T>C | NP_997255.2:n.985+8283T>C | |
XM_017016236.1:c.838+8283T>C | XP_016871725.1:n.838+8283T>C | |
NM_001388272.1:c.988+8283T>C MANE Select | NP_001375201.1:n.988+8283T>C |