Linked Data
ClinVar Variation Id:
345598
dbSNP Id:
rs749111054
ExAC:
3:46944791 G / A
gnomAD v2:
3-46944791-G-A
gnomAD v3:
3-46903301-G-A
gnomAD v4:
3-46903301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46903301G>A , CM000665.2:g.46903301G>A | GRCh38 |
| NC_000003.11:g.46944791G>A , CM000665.1:g.46944791G>A | GRCh37 |
| NC_000003.10:g.46919795G>A | NCBI36 |
| NG_008864.1:g.30556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449590.6:c.1427G>A MANE Select | ENSP00000402723.1:p.Arg476His | |
| ENST00000313049.9:c.1427G>A | ENSP00000321999.4:p.Arg476His | |
| ENST00000418619.5:c.1427G>A | ENSP00000411424.1:p.Arg476His | |
| ENST00000422115.2:c.194G>A | ENSP00000396176.1:p.Arg65His | |
| ENST00000427125.6:c.1427G>A | ENSP00000400977.2:p.Arg476His | |
| ENST00000428220.1:c.*364G>A | ENSP00000389811.1:n.*364G>A | |
| ENST00000430002.6:c.1427G>A | ENSP00000413774.2:p.Arg476His | |
| ENST00000449590.5:c.1427G>A | ENSP00000402723.1:p.Arg476His | |
| NM_000316.2:c.1427G>A | NP_000307.1:p.Arg476His | |
| NM_001184744.1:c.1427G>A | NP_001171673.1:p.Arg476His | |
| XM_005265344.2:c.1334G>A | XP_005265401.1:p.Arg445His | |
| XM_011533967.1:c.1466G>A | XP_011532269.1:p.Arg489His | |
| XM_011533968.1:c.1448G>A | XP_011532270.1:p.Arg483His | |
| XM_005265344.3:c.1334G>A | XP_005265401.1:p.Arg445His | |
| XM_011533967.3:c.1466G>A | XP_011532269.1:p.Arg489His | |
| XM_011533968.2:c.1448G>A | XP_011532270.1:p.Arg483His | |
| XM_017006932.2:c.1466G>A | XP_016862421.1:p.Arg489His | |
| XM_017006933.1:c.1427G>A | XP_016862422.1:p.Arg476His | |
| XM_017006934.1:c.1462G>A | XP_016862423.1:p.Ala488Thr | |
| NM_000316.3:c.1427G>A MANE Select | NP_000307.1:p.Arg476His |