Linked Data
ClinVar Variation Id:
352770
ClinVar RCV Id:
RCV000352567
dbSNP Id:
rs869366
gnomAD v2:
5-171763862-T-C
gnomAD v3:
5-172336858-T-C
gnomAD v4:
5-172336858-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172336858T>C , CM000667.2:g.172336858T>C | GRCh38 |
| NC_000005.9:g.171763862T>C , CM000667.1:g.171763862T>C | GRCh37 |
| NC_000005.8:g.171696467T>C | NCBI36 |
| NG_027746.1:g.122666A>G | |
| NG_027746.2:g.122666A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311601.6:c.*1511A>G MANE Select | ENSP00000309714.5:n.*1511A>G | |
| ENST00000636523.1:c.1228+9278A>G | ||
| ENST00000311601.5:c.*1511A>G | ENSP00000309714.5:n.*1511A>G | |
| ENST00000518522.5:c.201-3089A>G | ||
| ENST00000519643.5:c.1188+9278A>G | ENSP00000430890.1:n.1188+9278A>G | |
| NM_001017995.2:c.*1511A>G | NP_001017995.1:n.*1511A>G | |
| NM_001308175.1:c.1188+9278A>G | NP_001295104.1:n.1188+9278A>G | |
| XM_017009351.1:c.*1511A>G | XP_016864840.1:n.*1511A>G | |
| NM_001017995.3:c.*1511A>G MANE Select | NP_001017995.1:n.*1511A>G | |
| NM_001308175.2:c.1188+9278A>G | NP_001295104.1:n.1188+9278A>G |