Linked Data
dbSNP Id:
rs17787940
gnomAD v2:
3-149250589-T-C
gnomAD v3:
3-149532802-T-C
gnomAD v4:
3-149532802-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149532802T>C , CM000665.2:g.149532802T>C | GRCh38 |
| NC_000003.11:g.149250589T>C , CM000665.1:g.149250589T>C | GRCh37 |
| NC_000003.10:g.150733279T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360632.8:c.772-4833A>G MANE Select | ENSP00000353847.3:n.772-4833A>G | |
| ENST00000360632.7:c.772-4833A>G | ENSP00000353847.3:n.772-4833A>G | |
| ENST00000465804.5:c.772-4833A>G | ENSP00000419465.1:n.772-4833A>G | |
| ENST00000467467.5:c.772-4833A>G | ENSP00000419234.1:n.772-4833A>G | |
| ENST00000471586.5:c.47-4833A>G | ||
| ENST00000472417.1:c.346-4833A>G | ENSP00000417339.1:n.346-4833A>G | |
| ENST00000485244.1:n.106-4833A>G | ||
| ENST00000494754.1:c.52-4833A>G | ||
| NM_001168278.1:c.772-4833A>G | NP_001161750.1:n.772-4833A>G | |
| NM_001168280.1:c.772-4833A>G | NP_001161752.1:n.772-4833A>G | |
| NM_015472.4:c.772-4833A>G | NP_056287.1:n.772-4833A>G | |
| XM_011512661.1:c.772-4833A>G | XP_011510963.1:n.772-4833A>G | |
| NM_001168278.2:c.772-4833A>G | NP_001161750.1:n.772-4833A>G | |
| NM_001168280.2:c.772-4833A>G | NP_001161752.1:n.772-4833A>G | |
| NM_001348362.1:c.772-4833A>G | NP_001335291.1:n.772-4833A>G | |
| NM_015472.5:c.772-4833A>G | NP_056287.1:n.772-4833A>G | |
| XM_017006122.1:c.772-4833A>G | XP_016861611.1:n.772-4833A>G | |
| NM_001168280.3:c.772-4833A>G | NP_001161752.1:n.772-4833A>G | |
| NM_015472.6:c.772-4833A>G MANE Select | NP_056287.1:n.772-4833A>G | |
| NM_001168278.3:c.772-4833A>G | NP_001161750.1:n.772-4833A>G | |
| NM_001348362.2:c.772-4833A>G | NP_001335291.1:n.772-4833A>G |