Linked Data
dbSNP Id:
rs1257627394
gnomAD v2:
3-30730731-A-G
gnomAD v3:
3-30689239-A-G
gnomAD v4:
3-30689239-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30689239A>G , CM000665.2:g.30689239A>G | GRCh38 |
| NC_000003.11:g.30730731A>G , CM000665.1:g.30730731A>G | GRCh37 |
| NC_000003.10:g.30705735A>G | NCBI36 |
| NG_007490.1:g.87738A>G , LRG_779:g.87738A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1524+728A>G MANE Select | ENSP00000295754.5:n.1524+728A>G | |
| ENST00000672050.1:n.408+728A>G | ||
| ENST00000672866.1:n.3120+728A>G | ||
| ENST00000673203.1:n.402+728A>G | ||
| ENST00000295754.9:c.1524+728A>G | ENSP00000295754.5:n.1524+728A>G | |
| ENST00000359013.4:c.1599+728A>G | ENSP00000351905.4:n.1599+728A>G | |
| NM_001024847.2:c.1599+728A>G , LRG_779t1:c.1599+728A>G | NP_001020018.1:n.1599+728A>G | |
| NM_003242.5:c.1524+728A>G | NP_003233.4:n.1524+728A>G | |
| XM_011534043.1:c.1551+728A>G | XP_011532345.1:n.1551+728A>G | |
| XM_011534044.1:c.1476+728A>G | XP_011532346.1:n.1476+728A>G | |
| XM_011534045.1:c.1419+728A>G | XP_011532347.1:n.1419+728A>G | |
| XM_011534043.2:c.1551+728A>G | XP_011532345.1:n.1551+728A>G | |
| XM_011534045.3:c.1419+728A>G | XP_011532347.1:n.1419+728A>G | |
| XM_017007106.1:c.1419+728A>G | XP_016862595.1:n.1419+728A>G | |
| NM_003242.6:c.1524+728A>G MANE Select | NP_003233.4:n.1524+728A>G |