Linked Data
dbSNP Id:
rs2489188
gnomAD v2:
1-92332489-C-T
gnomAD v3:
1-91866932-C-T
gnomAD v4:
1-91866932-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.91866932C>T , CM000663.2:g.91866932C>T | GRCh38 |
| NC_000001.10:g.92332489C>T , CM000663.1:g.92332489C>T | GRCh37 |
| NC_000001.9:g.92105077C>T | NCBI36 |
| NG_027757.1:g.44071G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000212355.9:c.-113-5288G>A MANE Select | ENSP00000212355.4:n.-113-5288G>A | |
| ENST00000212355.8:c.-113-5288G>A | ENSP00000212355.4:n.-113-5288G>A | |
| ENST00000370399.6:c.-113-5288G>A | ENSP00000359426.2:n.-113-5288G>A | |
| ENST00000417833.2:c.-200-90G>A | ENSP00000395975.2:n.-200-90G>A | |
| ENST00000465892.6:c.-113-5288G>A | ENSP00000432638.1:n.-113-5288G>A | |
| ENST00000532540.5:c.-113-5288G>A | ENSP00000434994.1:n.-113-5288G>A | |
| ENST00000533370.1:n.123-2653G>A | ||
| NM_001195683.1:c.-113-5288G>A | NP_001182612.1:n.-113-5288G>A | |
| NM_001195684.1:c.-113-5288G>A | NP_001182613.1:n.-113-5288G>A | |
| NM_003243.4:c.-113-5288G>A | NP_003234.2:n.-113-5288G>A | |
| NR_036634.1:n.403-5288G>A | ||
| XM_006710867.1:c.-113-5288G>A | XP_006710930.1:n.-113-5288G>A | |
| XM_006710867.2:c.-113-5288G>A | XP_006710930.1:n.-113-5288G>A | |
| NM_003243.5:c.-113-5288G>A MANE Select | NP_003234.2:n.-113-5288G>A | |
| NM_001195683.2:c.-113-5288G>A | NP_001182612.1:n.-113-5288G>A | |
| NR_036634.2:n.275-5288G>A |