HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48303853G>C , CM000675.2:g.48303853G>C | GRCh38 |
NC_000013.10:g.48877989G>C , CM000675.1:g.48877989G>C | GRCh37 |
NC_000013.9:g.47775990G>C | NCBI36 |
NG_009009.1:g.5107G>C , LRG_517:g.5107G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.-60G>C MANE Select | ENSP00000267163.4:n.-60G>C | |
ENST00000646097.1:c.-60G>C | ENSP00000496556.1:n.-60G>C | |
ENST00000650461.1:c.-60G>C | ENSP00000497193.1:n.-60G>C | |
ENST00000267163.4:c.-60G>C | ENSP00000267163.4:n.-60G>C | |
ENST00000467505.5:c.-60G>C | ENSP00000434702.1:n.-60G>C | |
ENST00000525036.1:n.103G>C | ||
NM_000321.2:c.-60G>C , LRG_517t1:c.-60G>C | NP_000312.2:n.-60G>C | |
NM_000321.3:c.-60G>C MANE Select | NP_000312.2:n.-60G>C |