HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73193385G>C , CM000679.2:g.73193385G>C | GRCh38 |
NC_000017.10:g.71189524G>C , CM000679.1:g.71189524G>C | GRCh37 |
NC_000017.9:g.68701119G>C | NCBI36 |
NG_008971.1:g.5352G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.315+1G>C MANE Select | ENSP00000299886.4:n.315+1G>C | |
ENST00000299886.8:c.315+1G>C | ENSP00000299886.4:n.315+1G>C | |
ENST00000438720.7:c.313+1G>C | ||
ENST00000582587.2:c.292+1G>C | ||
ENST00000618996.4:c.315+1G>C | ENSP00000479450.1:n.315+1G>C | |
NM_018714.2:c.315+1G>C | NP_061184.1:n.315+1G>C | |
NM_018714.3:c.315+1G>C MANE Select | NP_061184.1:n.315+1G>C |