Linked Data
ClinVar Variation Id:
242783
dbSNP Id:
rs267607207
ExAC:
3:49160649 G / T
gnomAD v2:
3-49160649-G-T
gnomAD v3:
3-49123216-G-T
gnomAD v4:
3-49123216-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123216G>T , CM000665.2:g.49123216G>T | GRCh38 |
| NC_000003.11:g.49160649G>T , CM000665.1:g.49160649G>T | GRCh37 |
| NC_000003.10:g.49135653G>T | NCBI36 |
| NG_008094.1:g.14951C>A | |
| NG_054716.1:g.2723C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.4140C>A MANE Select | ENSP00000307156.4:p.Asn1380Lys | |
| ENST00000305544.8:c.4140C>A | ENSP00000307156.4:p.Asn1380Lys | |
| ENST00000418109.5:c.4140C>A | ENSP00000388325.1:p.Asn1380Lys | |
| ENST00000469665.1:n.370C>A | ||
| NM_002292.3:c.4140C>A | NP_002283.3:p.Asn1380Lys | |
| XM_005265127.3:c.4140C>A | XP_005265184.1:p.Asn1380Lys | |
| XM_005265127.4:c.4140C>A | XP_005265184.1:p.Asn1380Lys | |
| NM_002292.4:c.4140C>A MANE Select | NP_002283.3:p.Asn1380Lys |