Linked Data
ClinVar Variation Id:
313115
ClinVar RCV Id:
RCV001706478
dbSNP Id:
rs1050851
ExAC:
14:35872926 G / A
gnomAD v2:
14-35872926-G-A
gnomAD v3:
14-35403720-G-A
gnomAD v4:
14-35403720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35403720G>A , CM000676.2:g.35403720G>A | GRCh38 |
| NC_000014.8:g.35872926G>A , CM000676.1:g.35872926G>A | GRCh37 |
| NC_000014.7:g.34942677G>A | NCBI36 |
| NG_007571.1:g.6019C>T , LRG_89:g.6019C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553342.2:c.234C>T | ENSP00000451281.2:p.Ala78= | |
| ENST00000557459.2:n.404C>T | ||
| ENST00000697956.1:n.185C>T | ||
| ENST00000697957.1:n.411C>T | ||
| ENST00000697958.1:n.404C>T | ||
| ENST00000697959.1:n.411C>T | ||
| ENST00000697960.1:n.391C>T | ||
| ENST00000697961.1:c.306C>T | ENSP00000513487.1:p.Ala102= | |
| ENST00000697962.1:c.36C>T | ENSP00000513488.1:p.Ala12= | |
| ENST00000697966.1:n.324C>T | ||
| ENST00000216797.10:c.306C>T MANE Select | ENSP00000216797.6:p.Ala102= | |
| ENST00000216797.9:c.306C>T | ENSP00000216797.5:p.Ala102= | |
| ENST00000554001.5:c.228-360C>T | ENSP00000450537.1:n.228-360C>T | |
| ENST00000555629.1:n.411C>T | ||
| ENST00000557100.5:n.362C>T | ||
| ENST00000557140.5:c.306C>T | ENSP00000451257.1:p.Ala102= | |
| ENST00000557389.1:c.36C>T | ENSP00000450514.1:p.Ala12= | |
| ENST00000557459.1:n.404C>T | ||
| NM_020529.2:c.306C>T , LRG_89t1:c.306C>T | NP_065390.1:p.Ala102= | |
| NM_020529.3:c.306C>T MANE Select | NP_065390.1:p.Ala102= |