Linked Data
ClinVar Variation Id:
2594107
ClinVar RCV Id:
RCV004340081
dbSNP Id:
rs145794465
ExAC:
3:182870211 G / T
gnomAD v2:
3-182870211-G-T
gnomAD v3:
3-183152423-G-T
gnomAD v4:
3-183152423-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183152423G>T , CM000665.2:g.183152423G>T | GRCh38 |
| NC_000003.11:g.182870211G>T , CM000665.1:g.182870211G>T | GRCh37 |
| NC_000003.10:g.184352905G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265598.8:c.840C>A MANE Select | ENSP00000265598.3:p.Asn280Lys | |
| ENST00000265598.7:c.840C>A | ENSP00000265598.3:p.Asn280Lys | |
| ENST00000466939.1:c.768C>A | ENSP00000418912.1:p.Asn256Lys | |
| NM_014398.3:c.840C>A | NP_055213.2:p.Asn280Lys | |
| XM_005247360.3:c.840C>A | XP_005247417.1:p.Asn280Lys | |
| XM_006713586.2:c.768C>A | XP_006713649.1:p.Asn256Lys | |
| XM_011512688.1:c.840C>A | XP_011510990.1:p.Asn280Lys | |
| XR_924123.1:n.900C>A | ||
| XR_924124.1:n.900C>A | ||
| XM_005247360.5:c.840C>A | XP_005247417.1:p.Asn280Lys | |
| XM_006713586.3:c.768C>A | XP_006713649.1:p.Asn256Lys | |
| XM_011512688.2:c.840C>A | XP_011510990.1:p.Asn280Lys | |
| XM_024453453.1:c.768C>A | XP_024309221.1:p.Asn256Lys | |
| NM_014398.4:c.840C>A MANE Select | NP_055213.2:p.Asn280Lys |