Linked Data
dbSNP Id:
rs2133402
gnomAD v2:
3-256258-T-G
gnomAD v3:
3-214575-T-G
gnomAD v4:
3-214575-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.214575T>G , CM000665.2:g.214575T>G | GRCh38 |
| NC_000003.11:g.256258T>G , CM000665.1:g.256258T>G | GRCh37 |
| NC_000003.10:g.231258T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256509.7:c.-175+17512T>G MANE Select | ENSP00000256509.2:n.-175+17512T>G | |
| ENST00000256509.6:c.-175+17512T>G | ENSP00000256509.2:n.-175+17512T>G | |
| ENST00000397491.6:c.-175+17512T>G | ENSP00000380628.2:n.-175+17512T>G | |
| ENST00000421198.5:c.-175+17207T>G | ENSP00000413628.1:n.-175+17207T>G | |
| ENST00000427688.5:c.-95+17512T>G | ENSP00000403311.1:n.-95+17512T>G | |
| ENST00000435603.5:c.-95+16483T>G | ENSP00000397445.1:n.-95+16483T>G | |
| ENST00000453040.5:c.*164+16483T>G | ENSP00000413109.1:n.*164+16483T>G | |
| ENST00000481167.5:n.293+17512T>G | ||
| ENST00000489224.5:n.450+16483T>G | ||
| NM_001253387.1:c.-175+17512T>G | NP_001240316.1:n.-175+17512T>G | |
| NM_006614.3:c.-175+17512T>G | NP_006605.2:n.-175+17512T>G | |
| NR_045572.1:n.450+16483T>G | ||
| XM_006712938.1:c.-175+17207T>G | XP_006713001.1:n.-175+17207T>G | |
| XM_006712939.2:c.-95+17512T>G | XP_006713002.1:n.-95+17512T>G | |
| XM_006712940.2:c.-95+16483T>G | XP_006713003.1:n.-95+16483T>G | |
| XM_011533292.1:c.-175+16483T>G | XP_011531594.1:n.-175+16483T>G | |
| XM_011533294.1:c.-175+17207T>G | XP_011531596.1:n.-175+17207T>G | |
| XM_011533295.1:c.-175+16483T>G | XP_011531597.1:n.-175+16483T>G | |
| XM_011533296.1:c.-175+17207T>G | XP_011531598.1:n.-175+17207T>G | |
| XM_011533297.1:c.-175+17207T>G | XP_011531599.1:n.-175+17207T>G | |
| XM_006712939.3:c.-95+17512T>G | XP_006713002.1:n.-95+17512T>G | |
| XM_006712940.3:c.-95+16483T>G | XP_006713003.1:n.-95+16483T>G | |
| XM_017005566.1:c.-3300T>G | XP_016861055.1:n.-3300T>G | |
| XM_017005567.1:c.-95+17207T>G | XP_016861056.1:n.-95+17207T>G | |
| XM_017005569.1:c.-95+17512T>G | XP_016861058.1:n.-95+17512T>G | |
| XM_017005570.1:c.-95+16483T>G | XP_016861059.1:n.-95+16483T>G | |
| XM_017005571.1:c.-95+17207T>G | XP_016861060.1:n.-95+17207T>G | |
| XM_017005572.1:c.-175+17512T>G | XP_016861061.1:n.-175+17512T>G | |
| XM_017005573.1:c.-95+17512T>G | XP_016861062.1:n.-95+17512T>G | |
| NM_006614.4:c.-175+17512T>G MANE Select | NP_006605.2:n.-175+17512T>G | |
| NR_045572.2:n.204+16483T>G | ||
| NM_001253387.2:c.-175+17512T>G | NP_001240316.1:n.-175+17512T>G |