Linked Data
ClinVar Variation Id:
2191149
dbSNP Id:
rs538107717
ExAC:
3:58503083 G / A
gnomAD v2:
3-58503083-G-A
gnomAD v3:
3-58517356-G-A
gnomAD v4:
3-58517356-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58517356G>A , CM000665.2:g.58517356G>A | GRCh38 |
| NC_000003.11:g.58503083G>A , CM000665.1:g.58503083G>A | GRCh37 |
| NC_000003.10:g.58478123G>A | NCBI36 |
| NG_052668.1:g.24847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.1700C>T MANE Select | ENSP00000307697.5:p.Ala567Val | |
| ENST00000302819.9:c.1700C>T | ENSP00000307697.5:p.Ala567Val | |
| ENST00000459701.6:c.1658C>T | ENSP00000418562.2:p.Ala553Val | |
| ENST00000460921.1:c.32C>T | ENSP00000417877.1:p.Ala11Val | |
| ENST00000467738.1:n.638C>T | ||
| ENST00000481527.5:n.208C>T | ||
| NM_003500.3:c.1700C>T | NP_003491.1:p.Ala567Val | |
| XM_005265505.1:c.1700C>T | XP_005265562.1:p.Ala567Val | |
| XM_005265506.2:c.1490C>T | XP_005265563.1:p.Ala497Val | |
| XM_006713340.2:c.1406C>T | XP_006713403.1:p.Ala469Val | |
| XM_011534147.1:c.1865C>T | XP_011532449.1:p.Ala622Val | |
| XM_011534148.1:c.1406C>T | XP_011532450.1:p.Ala469Val | |
| XM_006713340.3:c.1406C>T | XP_006713403.1:p.Ala469Val | |
| XM_017007302.2:c.1490C>T | XP_016862791.1:p.Ala497Val | |
| XM_024453786.1:c.1490C>T | XP_024309554.1:p.Ala497Val | |
| NM_003500.4:c.1700C>T MANE Select | NP_003491.1:p.Ala567Val |