Linked Data
ClinVar Variation Id:
1403983
ClinVar RCV Id:
RCV001901414
dbSNP Id:
rs145819052
ExAC:
17:61564420 T / A
gnomAD v2:
17-61564420-T-A
gnomAD v3:
17-63487059-T-A
gnomAD v4:
17-63487059-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487059T>A , CM000679.2:g.63487059T>A | GRCh38 |
| NC_000017.10:g.61564420T>A , CM000679.1:g.61564420T>A | GRCh37 |
| NC_000017.9:g.58918152T>A | NCBI36 |
| NG_011648.1:g.14987T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2291T>A MANE Select | ENSP00000290866.4:p.Leu764Gln | |
| ENST00000290863.10:c.569T>A | ENSP00000290863.6:p.Leu190Gln | |
| ENST00000290866.9:c.2291T>A | ENSP00000290866.4:p.Leu764Gln | |
| ENST00000413513.7:c.569T>A | ENSP00000392247.3:p.Leu190Gln | |
| ENST00000428043.5:c.2291T>A | ENSP00000397593.2:p.Leu764Gln | |
| ENST00000577647.2:c.569T>A | ENSP00000464149.1:p.Leu190Gln | |
| ENST00000578839.5:c.*361T>A | ENSP00000462110.2:n.*361T>A | |
| ENST00000579204.1:c.472T>A | ENSP00000464629.1:n.472T>A | |
| ENST00000579314.5:c.569T>A | ENSP00000462599.1:p.Leu190Gln | |
| ENST00000579726.5:c.853T>A | ||
| ENST00000582005.5:c.*211T>A | ENSP00000462002.1:n.*211T>A | |
| ENST00000582761.1:c.59T>A | ENSP00000462909.1:p.Leu20Gln | |
| ENST00000584865.5:n.237T>A | ||
| NM_000789.3:c.2291T>A | NP_000780.1:p.Leu764Gln | |
| NM_001178057.1:c.569T>A | NP_001171528.1:p.Leu190Gln | |
| NM_152830.2:c.569T>A | NP_690043.1:p.Leu190Gln | |
| XM_005257110.1:c.1742T>A | XP_005257167.1:p.Leu581Gln | |
| XM_006721737.2:c.629T>A | XP_006721800.2:p.Leu210Gln | |
| XM_006721737.3:c.629T>A | XP_006721800.2:p.Leu210Gln | |
| NM_000789.4:c.2291T>A MANE Select | NP_000780.1:p.Leu764Gln | |
| NM_001178057.2:c.569T>A | NP_001171528.1:p.Leu190Gln | |
| NM_152830.3:c.569T>A | NP_690043.1:p.Leu190Gln | |
| NM_001382700.1:c.1724T>A | NP_001369629.1:p.Leu575Gln | |
| NM_001382701.1:c.1439T>A | NP_001369630.1:p.Leu480Gln | |
| NM_001382702.1:c.221T>A | NP_001369631.1:p.Leu74Gln | |
| NR_168483.1:n.591T>A |