Linked Data
dbSNP Id:
rs1315784360
gnomAD v2:
4-73179293-T-C
gnomAD v3:
4-72313576-T-C
gnomAD v4:
4-72313576-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313576T>C , CM000666.2:g.72313576T>C | GRCh38 |
| NC_000004.11:g.73179293T>C , CM000666.1:g.73179293T>C | GRCh37 |
| NC_000004.10:g.73398157T>C | NCBI36 |
| NG_046955.1:g.260224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1745+101A>G MANE Select | ENSP00000286657.4:n.1745+101A>G | |
| ENST00000286657.8:c.1745+101A>G | ENSP00000286657.4:n.1745+101A>G | |
| ENST00000622135.1:c.1745+101A>G | ENSP00000480055.1:n.1745+101A>G | |
| NM_014243.2:c.1745+101A>G | NP_055058.2:n.1745+101A>G | |
| XM_011532421.1:c.1688+101A>G | XP_011530723.1:n.1688+101A>G | |
| XM_011532422.1:c.1661+101A>G | XP_011530724.1:n.1661+101A>G | |
| XM_011532423.1:c.1103+101A>G | XP_011530725.1:n.1103+101A>G | |
| XM_011532424.1:c.1013+101A>G | XP_011530726.1:n.1013+101A>G | |
| XM_011532421.2:c.1688+101A>G | XP_011530723.1:n.1688+101A>G | |
| XM_011532422.3:c.1661+101A>G | XP_011530724.1:n.1661+101A>G | |
| NM_014243.3:c.1745+101A>G MANE Select | NP_055058.2:n.1745+101A>G |