Linked Data
dbSNP Id:
rs1046701315
gnomAD v2:
1-232756160-G-A
gnomAD v3:
1-232620414-G-A
gnomAD v4:
1-232620414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232620414G>A , CM000663.2:g.232620414G>A | GRCh38 |
| NC_000001.10:g.232756160G>A , CM000663.1:g.232756160G>A | GRCh37 |
| NC_000001.9:g.230822783G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674635.1:c.-319+9455C>T MANE Select | ENSP00000502693.1:n.-319+9455C>T | |
| ENST00000674749.1:c.-575+9455C>T | ENSP00000502328.1:n.-575+9455C>T | |
| ENST00000674801.1:c.-319+10016C>T | ENSP00000502186.1:n.-319+10016C>T | |
| ENST00000675407.1:c.-396+9455C>T | ENSP00000502580.1:n.-396+9455C>T | |
| ENST00000675685.1:c.-319+10016C>T | ENSP00000501553.1:n.-319+10016C>T | |
| ENST00000676213.1:c.-270+10016C>T | ENSP00000501897.1:n.-270+10016C>T | |
| XM_005273211.1:c.-319+9455C>T | XP_005273268.1:n.-319+9455C>T | |
| XM_005273212.3:c.-347+9455C>T | XP_005273269.1:n.-347+9455C>T | |
| XM_005273213.3:c.-270+9455C>T | XP_005273270.1:n.-270+9455C>T | |
| XM_006711798.2:c.-413+9455C>T | XP_006711861.1:n.-413+9455C>T | |
| XM_011544242.1:c.-490+9455C>T | XP_011542544.1:n.-490+9455C>T | |
| XM_011544243.1:c.-396+9455C>T | XP_011542545.1:n.-396+9455C>T | |
| XM_011544244.1:c.-270+10016C>T | XP_011542546.1:n.-270+10016C>T | |
| XM_011544245.1:c.-490+9455C>T | XP_011542547.1:n.-490+9455C>T | |
| XM_005273211.2:c.-319+9455C>T | XP_005273268.1:n.-319+9455C>T | |
| XM_005273212.4:c.-347+9455C>T | XP_005273269.1:n.-347+9455C>T | |
| XM_005273213.4:c.-270+9455C>T | XP_005273270.1:n.-270+9455C>T | |
| XM_011544243.2:c.-396+9455C>T | XP_011542545.1:n.-396+9455C>T | |
| XM_017001896.1:c.-319+10016C>T | XP_016857385.1:n.-319+10016C>T | |
| XM_017001897.2:c.-319+9455C>T | XP_016857386.1:n.-319+9455C>T | |
| XM_017001898.2:c.-319+10016C>T | XP_016857387.1:n.-319+10016C>T | |
| NM_001377488.1:c.-319+10016C>T | NP_001364417.1:n.-319+10016C>T | |
| NM_020808.5:c.-319+9455C>T MANE Select | NP_065859.3:n.-319+9455C>T |