HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6540050C>G , CM000671.2:g.6540050C>G | GRCh38 |
NC_000009.11:g.6540050C>G , CM000671.1:g.6540050C>G | GRCh37 |
NC_000009.10:g.6530050C>G | NCBI36 |
NG_016397.1:g.110643G>C , LRG_643:g.110643G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321612.8:c.2665+1G>C MANE Select | ENSP00000370737.4:n.2665+1G>C | |
ENST00000638233.1:n.1100+1G>C | ||
ENST00000638661.1:c.865+1G>C | ENSP00000491369.1:n.865+1G>C | |
ENST00000638694.1:n.852+1G>C | ||
ENST00000639318.1:c.770-3814G>C | ENSP00000491932.1:n.770-3814G>C | |
ENST00000639364.1:n.2365+1G>C | ||
ENST00000639443.1:n.2233+1G>C | ||
ENST00000639461.1:n.1766+1G>C | ||
ENST00000639639.1:c.367+1G>C | ENSP00000491312.1:n.367+1G>C | |
ENST00000639954.1:n.2373+1G>C | ||
ENST00000640505.1:n.904+1G>C | ||
ENST00000321612.6:c.2665+1G>C | ENSP00000370737.3:n.2665+1G>C | |
ENST00000477960.1:n.129+1G>C | ||
NM_000170.2:c.2665+1G>C , LRG_643t1:c.2665+1G>C | NP_000161.2:n.2665+1G>C | |
NM_000170.3:c.2665+1G>C MANE Select | NP_000161.2:n.2665+1G>C |