Linked Data
ClinVar Variation Id:
3117211
ClinVar RCV Id:
RCV004407043
dbSNP Id:
rs200861229
ExAC:
2:143642980 G / A
gnomAD v2:
2-143642980-G-A
gnomAD v3:
2-142885411-G-A
gnomAD v4:
2-142885411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.142885411G>A , CM000664.2:g.142885411G>A | GRCh38 |
| NC_000002.11:g.143642980G>A , CM000664.1:g.143642980G>A | GRCh37 |
| NC_000002.10:g.143359450G>A | NCBI36 |
| NG_023254.1:g.12786G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264170.9:c.44G>A MANE Select | ENSP00000264170.4:p.Arg15His | |
| ENST00000264170.8:c.44G>A | ENSP00000264170.4:p.Arg15His | |
| ENST00000375773.6:c.44G>A | ENSP00000364928.2:p.Arg15His | |
| ENST00000409512.5:c.44G>A | ENSP00000386731.1:p.Arg15His | |
| ENST00000410015.6:c.44G>A | ENSP00000387296.1:p.Arg15His | |
| ENST00000424385.5:c.44G>A | ENSP00000401190.1:p.Arg15His | |
| ENST00000621320.4:c.17G>A | ENSP00000484801.1:p.Arg6His | |
| NM_001032998.1:c.44G>A | NP_001028170.1:p.Arg15His | |
| NM_001199241.1:c.44G>A | NP_001186170.1:p.Arg15His | |
| NM_003937.2:c.44G>A | NP_003928.1:p.Arg15His | |
| XM_011512101.1:c.44G>A | XP_011510403.1:p.Arg15His | |
| XR_923058.1:n.136G>A | ||
| XM_017005217.1:c.44G>A | XP_016860706.1:p.Arg15His | |
| XM_024453208.1:c.44G>A | XP_024308976.1:p.Arg15His | |
| NM_003937.3:c.44G>A MANE Select | NP_003928.1:p.Arg15His | |
| NM_001032998.2:c.44G>A | NP_001028170.1:p.Arg15His | |
| NM_001199241.2:c.44G>A | NP_001186170.1:p.Arg15His |