Linked Data
dbSNP Id:
rs374792626
ExAC:
11:67377805 C / T
gnomAD v2:
11-67377805-C-T
gnomAD v3:
11-67610334-C-T
gnomAD v4:
11-67610334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610334C>T , CM000673.2:g.67610334C>T | GRCh38 |
| NC_000011.9:g.67377805C>T , CM000673.1:g.67377805C>T | GRCh37 |
| NC_000011.8:g.67134381C>T | NCBI36 |
| NG_013353.1:g.8483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.511-47C>T MANE Select | ENSP00000322450.6:n.511-47C>T | |
| ENST00000647561.1:c.511-47C>T | ENSP00000497587.1:n.511-47C>T | |
| ENST00000322776.10:c.511-47C>T | ENSP00000322450.6:n.511-47C>T | |
| ENST00000415352.6:c.490-47C>T | ENSP00000395368.2:n.490-47C>T | |
| ENST00000526169.1:n.253-47C>T | ||
| ENST00000526770.5:n.370-47C>T | ||
| ENST00000529867.5:c.475-47C>T | ENSP00000434438.1:n.475-47C>T | |
| ENST00000529927.5:c.484-47C>T | ENSP00000436766.1:n.484-47C>T | |
| ENST00000530638.1:c.394-47C>T | ENSP00000436936.1:n.394-47C>T | |
| ENST00000532244.5:c.208-47C>T | ENSP00000435202.1:n.208-47C>T | |
| ENST00000532303.5:c.208-47C>T | ENSP00000432015.1:n.208-47C>T | |
| ENST00000532343.5:c.208-47C>T | ENSP00000431751.1:n.208-47C>T | |
| ENST00000533075.5:c.490-47C>T | ENSP00000437267.1:n.490-47C>T | |
| NM_001166102.1:c.484-47C>T | NP_001159574.1:n.484-47C>T | |
| NM_007103.3:c.511-47C>T | NP_009034.2:n.511-47C>T | |
| NM_001166102.2:c.484-47C>T | NP_001159574.1:n.484-47C>T | |
| NM_007103.4:c.511-47C>T MANE Select | NP_009034.2:n.511-47C>T |