Linked Data
ClinVar Variation Id:
523770
dbSNP Id:
rs369678636
ExAC:
4:88995974 C / T
gnomAD v2:
4-88995974-C-T
gnomAD v3:
4-88074822-C-T
gnomAD v4:
4-88074822-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88074822C>T , CM000666.2:g.88074822C>T | GRCh38 |
| NC_000004.11:g.88995974C>T , CM000666.1:g.88995974C>T | GRCh37 |
| NC_000004.10:g.89214998C>T | NCBI36 |
| NG_008604.1:g.72155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2533C>T MANE Select | ENSP00000237596.2:p.Arg845Ter | |
| ENST00000237596.6:c.2533C>T | ENSP00000237596.2:p.Arg845Ter | |
| ENST00000502363.1:c.787C>T | ENSP00000425289.1:p.Arg263Ter | |
| ENST00000508588.5:c.787C>T | ENSP00000427131.1:p.Arg263Ter | |
| ENST00000511337.5:n.785C>T | ||
| ENST00000512858.1:n.1011C>T | ||
| NM_000297.3:c.2533C>T | NP_000288.1:p.Arg845Ter | |
| XM_011532028.1:c.2308C>T | XP_011530330.1:p.Arg770Ter | |
| XM_011532029.1:c.1813C>T | XP_011530331.1:p.Arg605Ter | |
| XM_011532030.1:c.1693C>T | XP_011530332.1:p.Arg565Ter | |
| NR_156488.1:n.2499C>T | ||
| XM_011532028.2:c.2308C>T | XP_011530330.1:p.Arg770Ter | |
| XM_011532030.2:c.1693C>T | XP_011530332.1:p.Arg565Ter | |
| NM_000297.4:c.2533C>T MANE Select | NP_000288.1:p.Arg845Ter | |
| NR_156488.2:n.2511C>T |