HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14713655G>C , CM000667.2:g.14713655G>C | GRCh38 |
NC_000005.9:g.14713764G>C , CM000667.1:g.14713764G>C | GRCh37 |
NC_000005.8:g.14766764G>C | NCBI36 |
NG_008273.1:g.163124C>G | |
NG_008273.2:g.163131C>G | |
NG_051625.1:g.57862G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1154C>G (ANKH) MANE Select | ENSP00000284268.6:p.Ala385Gly | |
ENST00000284268.6:c.1154C>G (ANKH) | ENSP00000284268.6:p.Ala385Gly | |
ENST00000502585.1:n.396C>G (ANKH) | ||
NM_054027.4:c.1154C>G (ANKH) | NP_473368.1:p.Ala385Gly | |
NR_046285.1:n.962G>C | ||
NM_054027.5:c.1154C>G (ANKH) | NP_473368.1:p.Ala385Gly | |
XM_011514151.2:c.*980G>C (OTULIN) | XP_011512453.1:n.*980G>C | |
XM_017009644.2:c.1070C>G (ANKH) | XP_016865133.1:p.Ala357Gly | |
NM_054027.6:c.1154C>G (ANKH) MANE Select | NP_473368.1:p.Ala385Gly |