Linked Data
dbSNP Id:
rs201321724
ExAC:
3:53157864 T / C
gnomAD v2:
3-53157864-T-C
gnomAD v3:
3-53123848-T-C
gnomAD v4:
3-53123848-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53123848T>C , CM000665.2:g.53123848T>C | GRCh38 |
| NC_000003.11:g.53157864T>C , CM000665.1:g.53157864T>C | GRCh37 |
| NC_000003.10:g.53132904T>C | NCBI36 |
| NG_009203.1:g.11607A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.150-8A>G MANE Select | ENSP00000296292.3:n.150-8A>G | |
| ENST00000296292.7:c.150-8A>G | ENSP00000296292.3:n.150-8A>G | |
| ENST00000394738.7:c.150-1285A>G | ENSP00000378223.3:n.150-1285A>G | |
| ENST00000467048.1:c.150-8A>G | ENSP00000420325.1:n.150-8A>G | |
| NM_052859.3:c.150-8A>G | NP_443091.1:n.150-8A>G | |
| XM_005265537.3:c.150-8A>G | XP_005265594.1:n.150-8A>G | |
| XM_006713384.2:c.150-8A>G | XP_006713447.1:n.150-8A>G | |
| XM_011534214.1:c.150-8A>G | XP_011532516.1:n.150-8A>G | |
| XM_011534215.1:c.150-8A>G | XP_011532517.1:n.150-8A>G | |
| XR_940507.1:n.209-8A>G | ||
| XM_005265537.4:c.150-8A>G | XP_005265594.1:n.150-8A>G | |
| XM_006713384.3:c.150-8A>G | XP_006713447.1:n.150-8A>G | |
| XM_011534214.2:c.150-8A>G | XP_011532516.1:n.150-8A>G | |
| XM_011534215.3:c.150-8A>G | XP_011532517.1:n.150-8A>G | |
| XM_011534216.3:c.-691-8A>G | XP_011532518.1:n.-691-8A>G | |
| XM_017007460.1:c.150-8A>G | XP_016862949.1:n.150-8A>G | |
| XM_017007461.2:c.-691-8A>G | XP_016862950.1:n.-691-8A>G | |
| XR_001740360.2:n.216-8A>G | ||
| NM_052859.4:c.150-8A>G MANE Select | NP_443091.1:n.150-8A>G |