Linked Data
ClinVar Variation Id:
218573
ClinVar RCV Id:
RCV000203200
dbSNP Id:
rs780276345
ExAC:
14:59819337 T / C
gnomAD v2:
14-59819337-T-C
gnomAD v3:
14-59352619-T-C
gnomAD v4:
14-59352619-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.59352619T>C , CM000676.2:g.59352619T>C | GRCh38 |
| NC_000014.8:g.59819337T>C , CM000676.1:g.59819337T>C | GRCh37 |
| NC_000014.7:g.58889090T>C | NCBI36 |
| NG_047127.1:g.169009T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360909.8:c.2254T>C MANE Select | ENSP00000354162.3:p.Phe752Leu | |
| ENST00000360909.7:c.2254T>C | ENSP00000354162.3:p.Phe752Leu | |
| ENST00000395125.1:c.2284T>C | ENSP00000378557.1:p.Phe762Leu | |
| ENST00000553966.5:n.171T>C | ||
| ENST00000554459.5:n.473T>C | ||
| NM_001270520.1:c.2254T>C | NP_001257449.1:p.Phe752Leu | |
| NM_014992.2:c.2284T>C | NP_055807.1:p.Phe762Leu | |
| XM_005267430.1:c.2284T>C | XP_005267487.1:p.Phe762Leu | |
| XM_005267431.1:c.2284T>C | XP_005267488.1:p.Phe762Leu | |
| XM_005267430.2:c.2284T>C | XP_005267487.1:p.Phe762Leu | |
| NM_001270520.2:c.2254T>C MANE Select | NP_001257449.1:p.Phe752Leu |