HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766515T>G , CM000674.2:g.57766515T>G | GRCh38 |
NC_000012.11:g.58160298T>G , CM000674.1:g.58160298T>G | GRCh37 |
NC_000012.10:g.56446565T>G | NCBI36 |
NG_007076.1:g.5679A>C | |
NG_047060.1:g.10617A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.108-318A>C | ||
ENST00000713544.1:c.196-318A>C | ENSP00000518840.1:n.196-318A>C | |
ENST00000713545.1:c.196-318A>C | ENSP00000518841.1:n.196-318A>C | |
ENST00000228606.9:c.196-318A>C MANE Select | ENSP00000228606.4:n.196-318A>C | |
ENST00000228606.8:c.196-318A>C | ENSP00000228606.4:n.196-318A>C | |
ENST00000546609.1:c.108-318A>C | ||
ENST00000547344.5:n.250-318A>C | ||
NM_000785.3:c.196-318A>C | NP_000776.1:n.196-318A>C | |
NM_000785.4:c.196-318A>C MANE Select | NP_000776.1:n.196-318A>C |