Linked Data
ClinVar Variation Id:
430133
dbSNP Id:
rs144071994
ExAC:
5:95767810 T / C
gnomAD v2:
5-95767810-T-C
gnomAD v3:
5-96432106-T-C
gnomAD v4:
5-96432106-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96432106T>C , CM000667.2:g.96432106T>C | GRCh38 |
| NC_000005.9:g.95767810T>C , CM000667.1:g.95767810T>C | GRCh37 |
| NC_000005.8:g.95793566T>C | NCBI36 |
| NG_021161.1:g.6176A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.180+757A>G MANE Select | ENSP00000308024.2:n.180+757A>G | |
| ENST00000311106.7:c.180+757A>G | ENSP00000308024.2:n.180+757A>G | |
| ENST00000508626.5:c.16A>G | ENSP00000421600.1:p.Ile6Val | |
| ENST00000509190.1:c.180+757A>G | ENSP00000427294.1:n.180+757A>G | |
| NM_000439.4:c.180+757A>G | NP_000430.3:n.180+757A>G | |
| NM_001177875.1:c.16A>G | NP_001171346.1:p.Ile6Val | |
| NR_130776.1:n.354+52454T>C | ||
| NM_000439.5:c.180+757A>G MANE Select | NP_000430.3:n.180+757A>G | |
| NM_001177875.2:c.16A>G | NP_001171346.1:p.Ile6Val |