HGVS | Genome Assembly |
---|---|
NC_000023.11:g.67711680G>C , CM000685.2:g.67711680G>C | GRCh38 |
NC_000023.10:g.66931522G>C , CM000685.1:g.66931522G>C | GRCh37 |
NC_000023.9:g.66848247G>C | NCBI36 |
NG_009014.2:g.172649G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396043.4:c.*512G>C | ENSP00000379358.4:n.*512G>C | |
ENST00000374690.9:c.2164G>C MANE Select | ENSP00000363822.3:p.Ala722Pro | |
ENST00000396043.3:c.791G>C | ENSP00000379358.3:n.791G>C | |
ENST00000396044.8:c.2164G>C | ENSP00000379359.3:p.Ala722Pro | |
ENST00000612452.5:c.2164G>C | ENSP00000484033.2:p.Ala722Pro | |
ENST00000374690.7:c.2164G>C | ENSP00000363822.3:p.Ala722Pro | |
ENST00000396043.2:c.568G>C | ENSP00000379358.2:p.Ala190Pro | |
ENST00000396044.7:c.2164G>C | ENSP00000379359.3:p.Ala722Pro | |
ENST00000612452.4:c.1594G>C | ENSP00000484033.1:p.Ala532Pro | |
NM_000044.3:c.2164G>C | NP_000035.2:p.Ala722Pro | |
NM_001011645.2:c.568G>C | NP_001011645.1:p.Ala190Pro | |
NM_000044.4:c.2164G>C | NP_000035.2:p.Ala722Pro | |
NM_001011645.3:c.568G>C | NP_001011645.1:p.Ala190Pro | |
NM_000044.6:c.2164G>C MANE Select | NP_000035.2:p.Ala722Pro |