Linked Data
ClinVar Variation Id:
3047098
ClinVar RCV Id:
RCV003947004
dbSNP Id:
rs1257271445
gnomAD v3:
22-50625043-G-A
gnomAD v4:
22-50625043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50625043G>A , CM000684.2:g.50625043G>A | GRCh38 |
| NC_000022.10:g.51063471G>A , CM000684.1:g.51063471G>A | GRCh37 |
| NC_000022.9:g.49410337G>A | NCBI36 |
| NG_009260.2:g.8137C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.*102C>T MANE Select | ENSP00000216124.5:n.*102C>T | |
| ENST00000216124.9:c.*102C>T | ENSP00000216124.5:n.*102C>T | |
| ENST00000356098.9:c.*102C>T | ENSP00000348406.5:n.*102C>T | |
| ENST00000395619.3:c.*102C>T | ENSP00000378981.3:n.*102C>T | |
| ENST00000395621.7:c.*102C>T | ENSP00000378983.3:n.*102C>T | |
| ENST00000453344.6:c.*102C>T | ENSP00000412542.2:n.*102C>T | |
| ENST00000608497.1:c.180+320C>T | ||
| NM_000487.5:c.*102C>T | NP_000478.3:n.*102C>T | |
| NM_001085425.2:c.*102C>T | NP_001078894.2:n.*102C>T | |
| NM_001085426.2:c.*102C>T | NP_001078895.2:n.*102C>T | |
| NM_001085427.2:c.*102C>T | NP_001078896.2:n.*102C>T | |
| NM_001085428.2:c.*102C>T | NP_001078897.1:n.*102C>T | |
| XM_011530690.1:c.*102C>T | XP_011528992.1:n.*102C>T | |
| XM_011530691.1:c.*365C>T | XP_011528993.1:n.*365C>T | |
| NM_001362782.1:c.*102C>T | NP_001349711.1:n.*102C>T | |
| XM_011530691.3:c.*365C>T | XP_011528993.1:n.*365C>T | |
| XM_017028800.1:c.*102C>T | XP_016884289.1:n.*102C>T | |
| XM_024452241.1:c.*365C>T | XP_024308009.1:n.*365C>T | |
| NM_000487.6:c.*102C>T MANE Select | NP_000478.3:n.*102C>T | |
| NM_001085425.3:c.*102C>T | NP_001078894.2:n.*102C>T | |
| NM_001085426.3:c.*102C>T | NP_001078895.2:n.*102C>T | |
| NM_001085427.3:c.*102C>T | NP_001078896.2:n.*102C>T | |
| NM_001085428.3:c.*102C>T | NP_001078897.1:n.*102C>T | |
| NM_001362782.2:c.*102C>T | NP_001349711.1:n.*102C>T |