Linked Data
ClinVar Variation Id:
3124410
ClinVar RCV Id:
RCV004419286
dbSNP Id:
rs1453123165
gnomAD v2:
20-5948161-C-T
gnomAD v3:
20-5967515-C-T
gnomAD v4:
20-5967515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5967515C>T , CM000682.2:g.5967515C>T | GRCh38 |
| NC_000020.10:g.5948161C>T , CM000682.1:g.5948161C>T | GRCh37 |
| NC_000020.9:g.5896161C>T | NCBI36 |
| NG_042869.1:g.21864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652720.1:c.955C>T | ENSP00000498784.1:p.Leu319Phe | |
| ENST00000265187.4:c.955C>T | ENSP00000265187.4:p.Leu319Phe | |
| ENST00000378883.5:c.955C>T | ENSP00000368161.1:p.Leu319Phe | |
| ENST00000378886.6:c.955C>T | ENSP00000368164.2:p.Leu319Phe | |
| ENST00000378896.7:c.955C>T | ENSP00000368174.3:p.Leu319Phe | |
| ENST00000610722.4:c.955C>T MANE Select | ENSP00000478141.1:p.Leu319Phe | |
| NM_001281520.1:c.955C>T | NP_001268449.1:p.Leu319Phe | |
| NM_001281521.1:c.955C>T | NP_001268450.1:p.Leu319Phe | |
| NM_001281522.1:c.955C>T | NP_001268451.1:p.Leu319Phe | |
| NM_032485.5:c.955C>T | NP_115874.3:p.Leu319Phe | |
| NM_182802.2:c.955C>T | NP_877954.1:p.Leu319Phe | |
| XM_011529387.1:c.955C>T | XP_011527689.1:p.Leu319Phe | |
| XR_937169.1:n.1295C>T | ||
| XM_011529387.2:c.955C>T | XP_011527689.1:p.Leu319Phe | |
| XM_017028105.1:c.955C>T | XP_016883594.1:p.Leu319Phe | |
| XM_017028106.1:c.763C>T | XP_016883595.1:p.Leu255Phe | |
| XM_017028107.1:c.106C>T | XP_016883596.1:p.Leu36Phe | |
| XR_001754422.1:n.1295C>T | ||
| XR_001754423.1:n.1295C>T | ||
| NM_032485.6:c.955C>T MANE Select | NP_115874.3:p.Leu319Phe | |
| NM_182802.3:c.955C>T | NP_877954.1:p.Leu319Phe | |
| NM_001281520.2:c.955C>T | NP_001268449.1:p.Leu319Phe | |
| NM_001281521.2:c.955C>T | NP_001268450.1:p.Leu319Phe | |
| NM_001281522.2:c.955C>T | NP_001268451.1:p.Leu319Phe |