Linked Data
ClinVar Variation Id:
410876
ClinVar RCV Id:
RCV000459805
dbSNP Id:
rs370052217
ExAC:
7:21727085 T / A
gnomAD v2:
7-21727085-T-A
gnomAD v3:
7-21687467-T-A
gnomAD v4:
7-21687467-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21687467T>A , CM000669.2:g.21687467T>A | GRCh38 |
| NC_000007.13:g.21727085T>A , CM000669.1:g.21727085T>A | GRCh37 |
| NC_000007.12:g.21693610T>A | NCBI36 |
| NG_012886.2:g.149253T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.5864T>A MANE Select | ENSP00000475939.1:p.Leu1955Gln | |
| ENST00000328843.10:c.5885T>A | ENSP00000330671.7:p.Leu1962Gln | |
| ENST00000409508.7:c.5864T>A | ENSP00000475939.1:p.Leu1955Gln | |
| ENST00000620169.4:c.5885T>A | ENSP00000481693.1:p.Leu1962Gln | |
| NM_001277115.1:c.5864T>A | NP_001264044.1:p.Leu1955Gln | |
| NM_001277115.2:c.5864T>A MANE Select | NP_001264044.1:p.Leu1955Gln |