Linked Data
ClinVar Variation Id:
1255162
ClinVar RCV Id:
RCV001653271
dbSNP Id:
rs10515237
gnomAD v2:
5-95751549-A-G
gnomAD v3:
5-96415845-A-G
gnomAD v4:
5-96415845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96415845A>G , CM000667.2:g.96415845A>G | GRCh38 |
| NC_000005.9:g.95751549A>G , CM000667.1:g.95751549A>G | GRCh37 |
| NC_000005.8:g.95777305A>G | NCBI36 |
| NG_021161.1:g.22437T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311106.8:c.709+188T>C MANE Select | ENSP00000308024.2:n.709+188T>C | |
| ENST00000311106.7:c.709+188T>C | ENSP00000308024.2:n.709+188T>C | |
| ENST00000508626.5:c.568+188T>C | ENSP00000421600.1:n.568+188T>C | |
| NM_000439.4:c.709+188T>C | NP_000430.3:n.709+188T>C | |
| NM_001177875.1:c.568+188T>C | NP_001171346.1:n.568+188T>C | |
| NR_130776.1:n.354+36193A>G | ||
| NM_000439.5:c.709+188T>C MANE Select | NP_000430.3:n.709+188T>C | |
| NM_001177875.2:c.568+188T>C | NP_001171346.1:n.568+188T>C |