HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3518189A>G , CM000666.2:g.3518189A>G | GRCh38 |
NC_000004.11:g.3519916A>G , CM000666.1:g.3519916A>G | GRCh37 |
NC_000004.10:g.3489714A>G | NCBI36 |
NG_033873.1:g.19309T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648517.1:c.596T>C | ENSP00000496947.1:p.Ile199Thr | |
ENST00000650182.1:c.596T>C MANE Select | ENSP00000497444.1:p.Ile199Thr | |
ENST00000296325.9:n.559T>C | ||
ENST00000500728.2:c.596T>C | ENSP00000421922.1:p.Ile199Thr | |
ENST00000509198.1:n.642T>C | ||
ENST00000515119.5:c.*373T>C | ENSP00000421648.1:n.*373T>C | |
NM_002337.3:c.596T>C | NP_002328.1:p.Ile199Thr | |
NR_110005.1:n.559T>C | ||
NM_002337.4:c.596T>C MANE Select | NP_002328.1:p.Ile199Thr | |
XR_002959730.1:n.681T>C | ||
NR_110005.2:n.559T>C |