Linked Data
ClinVar Variation Id:
1397583
ClinVar RCV Id:
RCV001906201
dbSNP Id:
rs146728212
ExAC:
10:30728043 G / A
gnomAD v2:
10-30728043-G-A
gnomAD v3:
10-30439114-G-A
gnomAD v4:
10-30439114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30439114G>A , CM000672.2:g.30439114G>A | GRCh38 |
| NC_000010.10:g.30728043G>A , CM000672.1:g.30728043G>A | GRCh37 |
| NC_000010.9:g.30768049G>A | NCBI36 |
| NG_029984.1:g.10094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263056.6:c.176G>A MANE Select | ENSP00000263056.1:p.Arg59His | |
| ENST00000263056.5:c.176G>A | ENSP00000263056.1:p.Arg59His | |
| ENST00000375321.1:c.176G>A | ENSP00000364470.1:p.Arg59His | |
| ENST00000375322.2:c.176G>A | ENSP00000364471.1:p.Arg59His | |
| ENST00000413724.5:c.176G>A | ENSP00000391275.1:p.Arg59His | |
| ENST00000415139.5:c.176G>A | ENSP00000409653.1:p.Arg59His | |
| ENST00000542547.5:c.176G>A | ENSP00000443610.1:p.Arg59His | |
| NM_001244134.1:c.176G>A | NP_001231063.1:p.Arg59His | |
| NM_005204.3:c.176G>A | NP_005195.2:p.Arg59His | |
| XM_005252364.2:c.176G>A | XP_005252421.2:p.Arg59His | |
| XM_011519308.1:c.491G>A | XP_011517610.1:p.Arg164His | |
| XM_011519309.1:c.423+4366G>A | XP_011517611.1:n.423+4366G>A | |
| XM_011519310.1:c.176G>A | XP_011517612.1:p.Arg59His | |
| XM_011519311.1:c.176G>A | XP_011517613.1:p.Arg59His | |
| XM_011519312.1:c.176G>A | XP_011517614.1:p.Arg59His | |
| XM_011519313.1:c.176G>A | XP_011517615.1:p.Arg59His | |
| XM_011519314.1:c.176G>A | XP_011517616.1:p.Arg59His | |
| XM_011519315.1:c.176G>A | XP_011517617.1:p.Arg59His | |
| NM_001320961.1:c.176G>A | NP_001307890.1:p.Arg59His | |
| XM_017015708.1:c.176G>A | XP_016871197.1:p.Arg59His | |
| XM_017015709.2:c.176G>A | XP_016871198.1:p.Arg59His | |
| XM_017015710.1:c.176G>A | XP_016871199.1:p.Arg59His | |
| XM_017015711.2:c.-3676G>A | XP_016871200.1:n.-3676G>A | |
| XM_017015712.1:c.-3676G>A | XP_016871201.1:n.-3676G>A | |
| XM_017015713.1:c.-3676G>A | XP_016871202.1:n.-3676G>A | |
| XM_017015714.1:c.-3676G>A | XP_016871203.1:n.-3676G>A | |
| XM_024447819.1:c.-3676G>A | XP_024303587.1:n.-3676G>A | |
| NM_005204.4:c.176G>A MANE Select | NP_005195.2:p.Arg59His | |
| NM_001320961.2:c.176G>A | NP_001307890.1:p.Arg59His |