HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32474683T>C , CM000684.2:g.32474683T>C | GRCh38 |
NC_000022.10:g.32870670T>C , CM000684.1:g.32870670T>C | GRCh37 |
NC_000022.9:g.31200670T>C | NCBI36 |
NG_016001.1:g.4964T>C | |
NG_016001.2:g.4964T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.11:c.-320T>C | ENSP00000266087.7:n.-320T>C | |
ENST00000420700.5:c.-320T>C | ENSP00000406155.1:n.-320T>C | |
XM_011530106.1:c.-493T>C | XP_011528408.1:n.-493T>C | |
XM_024452207.1:c.-510T>C | XP_024307975.1:n.-510T>C |