Linked Data
ClinVar Variation Id:
3117601
ClinVar RCV Id:
RCV004409912
dbSNP Id:
rs750803630
ExAC:
3:49160621 G / A
gnomAD v2:
3-49160621-G-A
gnomAD v3:
3-49123188-G-A
gnomAD v4:
3-49123188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123188G>A , CM000665.2:g.49123188G>A | GRCh38 |
| NC_000003.11:g.49160621G>A , CM000665.1:g.49160621G>A | GRCh37 |
| NC_000003.10:g.49135625G>A | NCBI36 |
| NG_008094.1:g.14979C>T | |
| NG_054716.1:g.2751C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4168C>T MANE Select | ENSP00000307156.4:p.Leu1390Phe | |
| ENST00000305544.8:c.4168C>T | ENSP00000307156.4:p.Leu1390Phe | |
| ENST00000418109.5:c.4168C>T | ENSP00000388325.1:p.Leu1390Phe | |
| ENST00000469665.1:n.398C>T | ||
| NM_002292.3:c.4168C>T | NP_002283.3:p.Leu1390Phe | |
| XM_005265127.3:c.4168C>T | XP_005265184.1:p.Leu1390Phe | |
| XM_005265127.4:c.4168C>T | XP_005265184.1:p.Leu1390Phe | |
| NM_002292.4:c.4168C>T MANE Select | NP_002283.3:p.Leu1390Phe |