Linked Data
ClinVar Variation Id:
1658603
ClinVar RCV Id:
RCV002174223
dbSNP Id:
rs57216393
ExAC:
3:58517520 A / G
gnomAD v2:
3-58517520-A-G
gnomAD v3:
3-58531793-A-G
gnomAD v4:
3-58531793-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58531793A>G , CM000665.2:g.58531793A>G | GRCh38 |
| NC_000003.11:g.58517520A>G , CM000665.1:g.58517520A>G | GRCh37 |
| NC_000003.10:g.58492560A>G | NCBI36 |
| NG_052668.1:g.10410T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.603T>C MANE Select | ENSP00000307697.5:p.His201= | |
| ENST00000302819.9:c.603T>C | ENSP00000307697.5:p.His201= | |
| ENST00000459701.6:c.603T>C | ENSP00000418562.2:p.His201= | |
| ENST00000466810.5:n.401T>C | ||
| ENST00000489472.1:c.129T>C | ENSP00000418515.1:p.His43= | |
| ENST00000492530.1:c.432T>C | ||
| NM_003500.3:c.603T>C | NP_003491.1:p.His201= | |
| XM_005265505.1:c.603T>C | XP_005265562.1:p.His201= | |
| XM_005265506.2:c.393T>C | XP_005265563.1:p.His131= | |
| XM_006713340.2:c.309T>C | XP_006713403.1:p.His103= | |
| XM_011534147.1:c.768T>C | XP_011532449.1:p.His256= | |
| XM_011534148.1:c.309T>C | XP_011532450.1:p.His103= | |
| XM_006713340.3:c.309T>C | XP_006713403.1:p.His103= | |
| XM_017007302.2:c.393T>C | XP_016862791.1:p.His131= | |
| XM_024453786.1:c.393T>C | XP_024309554.1:p.His131= | |
| NM_003500.4:c.603T>C MANE Select | NP_003491.1:p.His201= |