Linked Data
ClinVar Variation Id:
301574
dbSNP Id:
rs762226885
ExAC:
10:90974831 G / T
gnomAD v2:
10-90974831-G-T
gnomAD v4:
10-89215074-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89215074G>T , CM000672.2:g.89215074G>T | GRCh38 |
| NC_000010.10:g.90974831G>T , CM000672.1:g.90974831G>T | GRCh37 |
| NC_000010.9:g.90964811G>T | NCBI36 |
| NG_008194.1:g.41830C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.967-13C>A MANE Select | ENSP00000337354.5:n.967-13C>A | |
| ENST00000336233.9:c.967-13C>A | ENSP00000337354.5:n.967-13C>A | |
| ENST00000371837.5:c.799-13C>A | ENSP00000360903.1:n.799-13C>A | |
| ENST00000456827.5:c.619-13C>A | ENSP00000413019.2:n.619-13C>A | |
| NM_000235.3:c.967-13C>A | NP_000226.2:n.967-13C>A | |
| NM_001127605.2:c.967-13C>A | NP_001121077.1:n.967-13C>A | |
| NM_001288979.1:c.619-13C>A | NP_001275908.1:n.619-13C>A | |
| XM_024448023.1:c.967-13C>A | XP_024303791.1:n.967-13C>A | |
| NM_000235.4:c.967-13C>A MANE Select | NP_000226.2:n.967-13C>A | |
| NM_001127605.3:c.967-13C>A | NP_001121077.1:n.967-13C>A | |
| NM_001288979.2:c.619-13C>A | NP_001275908.1:n.619-13C>A |