Linked Data
dbSNP Id:
rs12025126
gnomAD v2:
1-8759554-T-C
gnomAD v3:
1-8699495-T-C
gnomAD v4:
1-8699495-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8699495T>C , CM000663.2:g.8699495T>C | GRCh38 |
| NC_000001.10:g.8759554T>C , CM000663.1:g.8759554T>C | GRCh37 |
| NC_000001.9:g.8682141T>C | NCBI36 |
| NG_047035.1:g.123197A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704050.1:c.-145+25065A>G | ENSP00000515653.1:n.-145+25065A>G | |
| ENST00000400908.7:c.-144-43054A>G MANE Select | ENSP00000383700.2:n.-144-43054A>G | |
| ENST00000656437.1:c.-144-43054A>G | ENSP00000499322.1:n.-144-43054A>G | |
| ENST00000659924.1:c.-144-43054A>G | ENSP00000499704.1:n.-144-43054A>G | |
| ENST00000337907.7:c.-144-43054A>G | ENSP00000338629.3:n.-144-43054A>G | |
| ENST00000400908.6:c.-144-43054A>G | ENSP00000383700.2:n.-144-43054A>G | |
| ENST00000468247.1:c.-145+3560A>G | ENSP00000465271.1:n.-145+3560A>G | |
| ENST00000480342.5:n.409-43054A>G | ||
| NM_001042681.1:c.-144-43054A>G | NP_001036146.1:n.-144-43054A>G | |
| NM_012102.3:c.-144-43054A>G | NP_036234.3:n.-144-43054A>G | |
| XM_005263464.1:c.-145+3560A>G | XP_005263521.1:n.-145+3560A>G | |
| XM_006710653.1:c.-144-43054A>G | XP_006710716.1:n.-144-43054A>G | |
| XM_011541510.1:c.-144-43054A>G | XP_011539812.1:n.-144-43054A>G | |
| XM_011541511.1:c.-144-43054A>G | XP_011539813.1:n.-144-43054A>G | |
| XM_005263464.2:c.-145+3560A>G | XP_005263521.1:n.-145+3560A>G | |
| XM_011541510.2:c.-144-43054A>G | XP_011539812.1:n.-144-43054A>G | |
| XM_011541511.2:c.-144-43054A>G | XP_011539813.1:n.-144-43054A>G | |
| XM_017001358.1:c.-144-43054A>G | XP_016856847.1:n.-144-43054A>G | |
| XM_017001359.1:c.-145+37388A>G | XP_016856848.1:n.-145+37388A>G | |
| NM_001042681.2:c.-144-43054A>G MANE Select | NP_001036146.1:n.-144-43054A>G | |
| NM_012102.4:c.-144-43054A>G | NP_036234.3:n.-144-43054A>G |