Linked Data
ClinVar Variation Id:
2726819
ClinVar RCV Id:
RCV003513412
dbSNP Id:
rs1817685627
gnomAD v4:
9-6558690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558690G>A , CM000671.2:g.6558690G>A | GRCh38 |
| NC_000009.11:g.6558690G>A , CM000671.1:g.6558690G>A | GRCh37 |
| NC_000009.10:g.6548690G>A | NCBI36 |
| NG_016397.1:g.92003C>T , LRG_643:g.92003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1927-6C>T MANE Select | ENSP00000370737.4:n.1927-6C>T | |
| ENST00000460457.2:n.87-6C>T | ||
| ENST00000638233.1:n.362-6C>T | ||
| ENST00000638661.1:c.127-6C>T | ENSP00000491369.1:n.127-6C>T | |
| ENST00000638694.1:n.114-6C>T | ||
| ENST00000639318.1:c.127-6C>T | ENSP00000491932.1:n.127-6C>T | |
| ENST00000639364.1:n.1627-6C>T | ||
| ENST00000639443.1:n.1495-6C>T | ||
| ENST00000639954.1:n.1635-6C>T | ||
| ENST00000640208.1:c.127-6C>T | ENSP00000491895.1:n.127-6C>T | |
| ENST00000640505.1:n.166-6C>T | ||
| ENST00000640592.1:n.1810-6C>T | ||
| ENST00000321612.6:c.1927-6C>T | ENSP00000370737.3:n.1927-6C>T | |
| ENST00000460457.1:n.66-6C>T | ||
| NM_000170.2:c.1927-6C>T , LRG_643t1:c.1927-6C>T | NP_000161.2:n.1927-6C>T | |
| NM_000170.3:c.1927-6C>T MANE Select | NP_000161.2:n.1927-6C>T |