Linked Data
dbSNP Id:
rs11165354
gnomAD v2:
1-92194322-C-A
gnomAD v3:
1-91728765-C-A
gnomAD v4:
1-91728765-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.91728765C>A , CM000663.2:g.91728765C>A | GRCh38 |
| NC_000001.10:g.92194322C>A , CM000663.1:g.92194322C>A | GRCh37 |
| NC_000001.9:g.91966910C>A | NCBI36 |
| NG_027757.1:g.182238G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000212355.9:c.738-959G>T MANE Select | ENSP00000212355.4:n.738-959G>T | |
| ENST00000212355.8:c.738-959G>T | ENSP00000212355.4:n.738-959G>T | |
| ENST00000370399.6:c.738-959G>T | ENSP00000359426.2:n.738-959G>T | |
| ENST00000465892.6:c.738-959G>T | ENSP00000432638.1:n.738-959G>T | |
| ENST00000468996.2:n.540-959G>T | ||
| ENST00000525962.5:c.738-959G>T | ENSP00000436127.1:n.738-959G>T | |
| ENST00000532540.5:c.*685-959G>T | ENSP00000434994.1:n.*685-959G>T | |
| ENST00000533089.5:c.*705-959G>T | ENSP00000433477.1:n.*705-959G>T | |
| NM_001195683.1:c.738-959G>T | NP_001182612.1:n.738-959G>T | |
| NM_001195684.1:c.738-959G>T | NP_001182613.1:n.738-959G>T | |
| NM_003243.4:c.738-959G>T | NP_003234.2:n.738-959G>T | |
| NR_036634.1:n.1350-959G>T | ||
| XM_006710867.1:c.738-959G>T | XP_006710930.1:n.738-959G>T | |
| XM_006710868.1:c.738-959G>T | XP_006710931.1:n.738-959G>T | |
| XM_011542058.1:c.72-959G>T | XP_011540360.1:n.72-959G>T | |
| XM_006710867.2:c.738-959G>T | XP_006710930.1:n.738-959G>T | |
| NM_003243.5:c.738-959G>T MANE Select | NP_003234.2:n.738-959G>T | |
| NM_001195683.2:c.738-959G>T | NP_001182612.1:n.738-959G>T | |
| NR_036634.2:n.1222-959G>T |