Linked Data
ClinVar Variation Id:
350115
dbSNP Id:
rs199892209
ExAC:
4:96036827 C / T
gnomAD v2:
4-96036827-C-T
gnomAD v3:
4-95115676-C-T
gnomAD v4:
4-95115676-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.95115676C>T , CM000666.2:g.95115676C>T | GRCh38 |
| NC_000004.11:g.96036827C>T , CM000666.1:g.96036827C>T | GRCh37 |
| NC_000004.10:g.96255850C>T | NCBI36 |
| NG_009245.1:g.362700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440890.7:c.337-9C>T | ENSP00000401907.2:n.337-9C>T | |
| ENST00000502683.6:n.463-9C>T | ||
| ENST00000509540.6:c.247-9C>T | ENSP00000421671.1:n.247-9C>T | |
| ENST00000515059.6:c.247-9C>T MANE Select | ENSP00000426617.1:n.247-9C>T | |
| ENST00000672698.1:c.247-9C>T | ENSP00000500035.1:n.247-9C>T | |
| ENST00000264568.8:c.247-9C>T | ENSP00000264568.4:n.247-9C>T | |
| ENST00000394931.1:c.247-9C>T | ENSP00000378389.1:n.247-9C>T | |
| ENST00000440890.6:c.337-9C>T | ENSP00000401907.2:n.337-9C>T | |
| ENST00000502683.5:c.252-9C>T | ENSP00000424693.1:n.252-9C>T | |
| ENST00000506363.5:c.247-9C>T | ENSP00000421144.1:n.247-9C>T | |
| ENST00000509540.5:c.247-9C>T | ENSP00000421671.1:n.247-9C>T | |
| ENST00000512312.5:c.247-9C>T | ENSP00000425444.1:n.247-9C>T | |
| ENST00000515059.5:c.247-9C>T | ENSP00000426617.1:n.247-9C>T | |
| NM_001203.2:c.247-9C>T | NP_001194.1:n.247-9C>T | |
| NM_001256792.1:c.247-9C>T | NP_001243721.1:n.247-9C>T | |
| NM_001256793.1:c.337-9C>T | NP_001243722.1:n.337-9C>T | |
| NM_001256794.1:c.247-9C>T | NP_001243723.1:n.247-9C>T | |
| XM_011532201.1:c.247-9C>T | XP_011530503.1:n.247-9C>T | |
| XM_011532202.1:c.247-9C>T | XP_011530504.1:n.247-9C>T | |
| XM_011532201.2:c.247-9C>T | XP_011530503.1:n.247-9C>T | |
| XM_017008558.1:c.247-9C>T | XP_016864047.1:n.247-9C>T | |
| XM_017008559.1:c.247-9C>T | XP_016864048.1:n.247-9C>T | |
| XM_017008560.1:c.247-9C>T | XP_016864049.1:n.247-9C>T | |
| XM_017008561.1:c.247-9C>T | XP_016864050.1:n.247-9C>T | |
| NM_001203.3:c.247-9C>T MANE Select | NP_001194.1:n.247-9C>T | |
| NM_001256793.2:c.337-9C>T | NP_001243722.1:n.337-9C>T | |
| NM_001256792.2:c.247-9C>T | NP_001243721.1:n.247-9C>T |