Linked Data
dbSNP Id:
rs377473147
ExAC:
10:102005525 T / C
gnomAD v2:
10-102005525-T-C
gnomAD v3:
10-100245768-T-C
gnomAD v4:
10-100245768-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100245768T>C , CM000672.2:g.100245768T>C | GRCh38 |
| NC_000010.10:g.102005525T>C , CM000672.1:g.102005525T>C | GRCh37 |
| NC_000010.9:g.101995515T>C | NCBI36 |
| NG_041811.1:g.26914A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354105.10:c.964+31A>G MANE Select | ENSP00000326411.6:n.964+31A>G | |
| ENST00000354105.8:c.964+31A>G | ENSP00000326411.6:n.964+31A>G | |
| ENST00000370379.1:c.229+31A>G | ENSP00000359405.1:n.229+31A>G | |
| ENST00000466408.1:n.318+31A>G | ||
| ENST00000466955.5:n.505+31A>G | ||
| ENST00000468709.5:n.820+31A>G | ||
| ENST00000478047.1:n.1200-7537A>G | ||
| ENST00000482452.5:n.652+31A>G | ||
| NM_001303404.1:c.964+31A>G | NP_001290333.1:n.964+31A>G | |
| NM_001303405.1:c.553+31A>G | NP_001290334.1:n.553+31A>G | |
| NM_001303406.1:c.553+31A>G | NP_001290335.1:n.553+31A>G | |
| NM_001303407.1:c.229+31A>G | NP_001290336.1:n.229+31A>G | |
| NM_018294.5:c.964+31A>G | NP_060764.3:n.964+31A>G | |
| NM_018294.6:c.964+31A>G MANE Select | NP_060764.3:n.964+31A>G | |
| NM_001303404.2:c.964+31A>G | NP_001290333.1:n.964+31A>G | |
| NM_001303405.2:c.553+31A>G | NP_001290334.1:n.553+31A>G | |
| NM_001303406.2:c.553+31A>G | NP_001290335.1:n.553+31A>G | |
| NM_001303407.2:c.229+31A>G | NP_001290336.1:n.229+31A>G |