Linked Data
ClinVar Variation Id:
683808
ClinVar RCV Id:
RCV000843991
dbSNP Id:
rs8100085
gnomAD v2:
19-35523119-T-A
gnomAD v3:
19-35032215-T-A
gnomAD v4:
19-35032215-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35032215T>A , CM000681.2:g.35032215T>A | GRCh38 |
| NC_000019.9:g.35523119T>A , CM000681.1:g.35523119T>A | GRCh37 |
| NC_000019.8:g.40214959T>A | NCBI36 |
| NG_013359.1:g.6528T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415950.5:c.41-313T>A | ENSP00000396915.2:n.41-313T>A | |
| ENST00000262631.11:c.41-313T>A MANE Select | ENSP00000262631.3:n.41-313T>A | |
| ENST00000415950.4:c.41-313T>A | ENSP00000396915.2:n.41-313T>A | |
| ENST00000596348.2:c.-59-313T>A | ENSP00000492247.1:n.-59-313T>A | |
| ENST00000638536.1:c.41-313T>A | ENSP00000492022.1:n.41-313T>A | |
| ENST00000640135.1:c.-59-313T>A | ENSP00000492655.1:n.-59-313T>A | |
| ENST00000262631.9:c.41-313T>A | ENSP00000262631.3:n.41-313T>A | |
| ENST00000415950.3:c.41-313T>A | ENSP00000396915.2:n.41-313T>A | |
| ENST00000595652.5:c.41-313T>A | ENSP00000468848.1:n.41-313T>A | |
| ENST00000596348.1:n.50-313T>A | ||
| NM_001037.4:c.41-313T>A | NP_001028.1:n.41-313T>A | |
| NM_199037.3:c.41-313T>A | NP_950238.1:n.41-313T>A | |
| XM_005259144.1:c.-59-313T>A | XP_005259201.1:n.-59-313T>A | |
| NM_001321605.1:c.-59-313T>A | NP_001308534.1:n.-59-313T>A | |
| NM_199037.4:c.41-313T>A | NP_950238.1:n.41-313T>A | |
| NM_001037.5:c.41-313T>A MANE Select | NP_001028.1:n.41-313T>A | |
| NM_001321605.2:c.-59-313T>A | NP_001308534.1:n.-59-313T>A | |
| NM_199037.5:c.41-313T>A | NP_950238.1:n.41-313T>A |