Linked Data
ClinVar Variation Id:
313117
ClinVar RCV Id:
RCV001824729
dbSNP Id:
rs1957106
ExAC:
14:35873770 G / A
gnomAD v2:
14-35873770-G-A
gnomAD v3:
14-35404564-G-A
gnomAD v4:
14-35404564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35404564G>A , CM000676.2:g.35404564G>A | GRCh38 |
| NC_000014.8:g.35873770G>A , CM000676.1:g.35873770G>A | GRCh37 |
| NC_000014.7:g.34943521G>A | NCBI36 |
| NG_007571.1:g.5175C>T , LRG_89:g.5175C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553342.2:c.81C>T | ENSP00000451281.2:p.Asp27= | |
| ENST00000557459.2:n.179C>T | ||
| ENST00000697957.1:n.186C>T | ||
| ENST00000697958.1:n.179C>T | ||
| ENST00000697959.1:n.186C>T | ||
| ENST00000697960.1:n.166C>T | ||
| ENST00000697961.1:c.81C>T | ENSP00000513487.1:p.Asp27= | |
| ENST00000697966.1:n.99C>T | ||
| ENST00000216797.10:c.81C>T MANE Select | ENSP00000216797.6:p.Asp27= | |
| ENST00000216797.9:c.81C>T | ENSP00000216797.5:p.Asp27= | |
| ENST00000553342.1:c.81C>T | ENSP00000451281.1:p.Asp27= | |
| ENST00000554001.5:c.81C>T | ENSP00000450537.1:p.Asp27= | |
| ENST00000555629.1:n.186C>T | ||
| ENST00000557100.5:n.137C>T | ||
| ENST00000557140.5:c.81C>T | ENSP00000451257.1:p.Asp27= | |
| ENST00000557459.1:n.179C>T | ||
| NM_020529.2:c.81C>T , LRG_89t1:c.81C>T | NP_065390.1:p.Asp27= | |
| NM_020529.3:c.81C>T MANE Select | NP_065390.1:p.Asp27= |