Linked Data
ClinVar Variation Id:
1268966
ClinVar RCV Id:
RCV001680071
dbSNP Id:
rs79000322
gnomAD v2:
5-95765079-T-G
gnomAD v3:
5-96429375-T-G
gnomAD v4:
5-96429375-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96429375T>G , CM000667.2:g.96429375T>G | GRCh38 |
| NC_000005.9:g.95765079T>G , CM000667.1:g.95765079T>G | GRCh37 |
| NC_000005.8:g.95790835T>G | NCBI36 |
| NG_021161.1:g.8907A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.181-58A>C MANE Select | ENSP00000308024.2:n.181-58A>C | |
| ENST00000311106.7:c.181-58A>C | ENSP00000308024.2:n.181-58A>C | |
| ENST00000508626.5:c.40-58A>C | ENSP00000421600.1:n.40-58A>C | |
| ENST00000509190.1:c.181-58A>C | ENSP00000427294.1:n.181-58A>C | |
| NM_000439.4:c.181-58A>C | NP_000430.3:n.181-58A>C | |
| NM_001177875.1:c.40-58A>C | NP_001171346.1:n.40-58A>C | |
| NR_130776.1:n.354+49723T>G | ||
| NM_000439.5:c.181-58A>C MANE Select | NP_000430.3:n.181-58A>C | |
| NM_001177875.2:c.40-58A>C | NP_001171346.1:n.40-58A>C |