Linked Data
ClinVar Variation Id:
44153
ClinVar RCV Id:
RCV000037129
RCV000296580
RCV000396198
RCV000625049
RCV000768699
RCV001534893
RCV002468988
RCV002513459
dbSNP Id:
rs77775029
ExAC:
1:116245533 G / A
gnomAD v2:
1-116245533-G-A
gnomAD v3:
1-115702912-G-A
gnomAD v4:
1-115702912-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115702912G>A , CM000663.2:g.115702912G>A | GRCh38 |
| NC_000001.10:g.116245533G>A , CM000663.1:g.116245533G>A | GRCh37 |
| NC_000001.9:g.116047056G>A | NCBI36 |
| NG_008802.1:g.70894C>T , LRG_404:g.70894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*386+9C>T | ENSP00000518226.1:n.*386+9C>T | |
| ENST00000261448.6:c.1014+9C>T MANE Select | ENSP00000261448.5:n.1014+9C>T | |
| ENST00000261448.5:c.1014+9C>T | ENSP00000261448.5:n.1014+9C>T | |
| NM_001232.3:c.1014+9C>T , LRG_404t1:c.1014+9C>T | NP_001223.2:n.1014+9C>T | |
| NM_001232.4:c.1014+9C>T MANE Select | NP_001223.2:n.1014+9C>T |