Linked Data
dbSNP Id:
rs1033936483
gnomAD v2:
1-52117136-A-G
gnomAD v3:
1-51651464-A-G
gnomAD v4:
1-51651464-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.51651464A>G , CM000663.2:g.51651464A>G | GRCh38 |
| NC_000001.10:g.52117136A>G , CM000663.1:g.52117136A>G | GRCh37 |
| NC_000001.9:g.51889724A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428468.6:c.112-527A>G MANE Select | ENSP00000407168.1:n.112-527A>G | |
| ENST00000371714.5:c.112-527A>G | ENSP00000360779.1:n.112-527A>G | |
| ENST00000428468.5:c.112-527A>G | ENSP00000407168.1:n.112-527A>G | |
| ENST00000435274.6:c.112-527A>G | ENSP00000390113.2:n.112-527A>G | |
| ENST00000447887.5:c.112-527A>G | ENSP00000412733.1:n.112-527A>G | |
| ENST00000453295.5:c.112-17970A>G | ENSP00000413263.1:n.112-17970A>G | |
| ENST00000489990.5:c.109-527A>G | ENSP00000434798.1:n.109-527A>G | |
| ENST00000495776.5:c.131-527A>G | ||
| NM_024586.5:c.112-527A>G | NP_078862.4:n.112-527A>G | |
| NM_148906.2:c.112-17970A>G | NP_683704.2:n.112-17970A>G | |
| NM_148908.3:c.112-527A>G | NP_683706.3:n.112-527A>G | |
| NM_148909.3:c.112-527A>G | NP_683707.3:n.112-527A>G | |
| NR_036662.1:n.349-527A>G | ||
| XM_006710318.1:c.112-527A>G | XP_006710381.1:n.112-527A>G | |
| XM_006710324.2:c.-305-527A>G | XP_006710387.1:n.-305-527A>G | |
| XM_006710325.2:c.-275-527A>G | XP_006710388.1:n.-275-527A>G | |
| XM_011540599.1:c.112-527A>G | XP_011538901.1:n.112-527A>G | |
| XM_011540600.1:c.112-527A>G | XP_011538902.1:n.112-527A>G | |
| XM_011540601.1:c.112-527A>G | XP_011538903.1:n.112-527A>G | |
| XM_011540602.1:c.-12-527A>G | XP_011538904.1:n.-12-527A>G | |
| XM_011540603.1:c.-374-527A>G | XP_011538905.1:n.-374-527A>G | |
| XM_011540605.1:c.112-527A>G | XP_011538907.1:n.112-527A>G | |
| NM_001350208.1:c.-631-527A>G | NP_001337137.1:n.-631-527A>G | |
| NM_001350209.1:c.-621-527A>G | NP_001337138.1:n.-621-527A>G | |
| XM_006710318.2:c.112-527A>G | XP_006710381.1:n.112-527A>G | |
| XM_006710324.3:c.-305-527A>G | XP_006710387.1:n.-305-527A>G | |
| XM_006710325.3:c.-275-527A>G | XP_006710388.1:n.-275-527A>G | |
| XM_011540599.2:c.112-527A>G | XP_011538901.1:n.112-527A>G | |
| XM_011540600.2:c.112-527A>G | XP_011538902.1:n.112-527A>G | |
| XM_011540601.2:c.112-527A>G | XP_011538903.1:n.112-527A>G | |
| XM_011540603.2:c.-374-527A>G | XP_011538905.1:n.-374-527A>G | |
| XM_017000218.1:c.112-527A>G | XP_016855707.1:n.112-527A>G | |
| XM_017000219.1:c.-374-527A>G | XP_016855708.1:n.-374-527A>G | |
| XR_001736953.1:n.134-527A>G | ||
| XR_001736954.1:n.134-527A>G | ||
| XR_001736955.2:n.138-527A>G | ||
| NM_024586.6:c.112-527A>G MANE Select | NP_078862.4:n.112-527A>G | |
| NM_001350208.2:c.-631-527A>G | NP_001337137.1:n.-631-527A>G | |
| NM_001350209.2:c.-621-527A>G | NP_001337138.1:n.-621-527A>G | |
| NM_148906.3:c.112-17970A>G | NP_683704.2:n.112-17970A>G | |
| NM_148908.4:c.112-527A>G | NP_683706.3:n.112-527A>G | |
| NM_148909.4:c.112-527A>G | NP_683707.3:n.112-527A>G | |
| NR_036662.2:n.131-527A>G |