HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32475029G>C , CM000684.2:g.32475029G>C | GRCh38 |
NC_000022.10:g.32871016G>C , CM000684.1:g.32871016G>C | GRCh37 |
NC_000022.9:g.31201016G>C | NCBI36 |
NG_016001.1:g.5310G>C | |
NG_016001.2:g.5310G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.27G>C MANE Select | ENSP00000266087.7:p.Lys9Asn | |
ENST00000266087.11:c.27G>C | ENSP00000266087.7:p.Lys9Asn | |
ENST00000420700.5:c.27G>C | ENSP00000406155.1:p.Lys9Asn | |
ENST00000425028.5:c.27G>C | ENSP00000395823.1:p.Lys9Asn | |
ENST00000492535.1:n.15G>C | ||
NM_012179.3:c.27G>C | NP_036311.3:p.Lys9Asn | |
XM_011530106.1:c.-147G>C | XP_011528408.1:n.-147G>C | |
XM_024452207.1:c.-164G>C | XP_024307975.1:n.-164G>C | |
NM_012179.4:c.27G>C MANE Select | NP_036311.3:p.Lys9Asn |