HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150977924T>G , CM000669.2:g.150977924T>G | GRCh38 |
NC_000007.13:g.150675012T>G , CM000669.1:g.150675012T>G | GRCh37 |
NC_000007.12:g.150305945T>G | NCBI36 |
NG_008916.1:g.5003A>C , LRG_288:g.5003A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262186.10:c.-11A>C MANE Select | ENSP00000262186.5:n.-11A>C | |
ENST00000262186.9:c.-11A>C | ENSP00000262186.5:n.-11A>C | |
ENST00000430723.4:c.-188A>C | ENSP00000387657.4:n.-188A>C | |
ENST00000532957.5:n.213A>C | ||
NM_000238.3:c.-11A>C , LRG_288t1:c.-11A>C | NP_000229.1:n.-11A>C | |
NM_172056.2:c.-11A>C , LRG_288t2:c.-11A>C | NP_742053.1:n.-11A>C | |
XM_011516186.1:c.-11A>C | XP_011514488.1:n.-11A>C | |
XM_011516186.3:c.-11A>C | XP_011514488.1:n.-11A>C | |
NM_000238.4:c.-11A>C MANE Select | NP_000229.1:n.-11A>C |