Linked Data
dbSNP Id:
rs2222656
gnomAD v2:
15-52773023-A-G
gnomAD v3:
15-52480826-A-G
gnomAD v4:
15-52480826-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.52480826A>G , CM000677.2:g.52480826A>G | GRCh38 |
| NC_000015.9:g.52773023A>G , CM000677.1:g.52773023A>G | GRCh37 |
| NC_000015.8:g.50560315A>G | NCBI36 |
| NG_009887.1:g.53225T>C , LRG_86:g.53225T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356338.11:c.28-47541T>C | ENSP00000348693.7:n.28-47541T>C | |
| ENST00000399231.8:c.28-47541T>C | ENSP00000382177.3:n.28-47541T>C | |
| ENST00000553916.6:c.28-47541T>C | ENSP00000451109.2:n.28-47541T>C | |
| ENST00000556196.6:c.28-47541T>C | ENSP00000451178.1:n.28-47541T>C | |
| ENST00000685053.1:c.28-47541T>C | ENSP00000510081.1:n.28-47541T>C | |
| ENST00000685760.1:c.3+46087T>C | ENSP00000510616.1:n.3+46087T>C | |
| ENST00000687574.1:c.28-47541T>C | ENSP00000510312.1:n.28-47541T>C | |
| ENST00000687728.1:c.28-47541T>C | ENSP00000509083.1:n.28-47541T>C | |
| ENST00000689526.1:c.28-47541T>C | ENSP00000510068.1:n.28-47541T>C | |
| ENST00000690693.1:c.99+43257T>C | ENSP00000509721.1:n.99+43257T>C | |
| ENST00000691028.1:c.28-47541T>C | ENSP00000509399.1:n.28-47541T>C | |
| ENST00000692556.1:c.28-47541T>C | ENSP00000510378.1:n.28-47541T>C | |
| ENST00000399233.7:c.28-47541T>C MANE Select | ENSP00000382179.4:n.28-47541T>C | |
| ENST00000356338.10:c.28-47541T>C | ENSP00000348693.6:n.28-47541T>C | |
| ENST00000358212.10:c.28-47541T>C | ENSP00000350945.7:n.28-47541T>C | |
| ENST00000399231.7:c.28-47541T>C | ENSP00000382177.3:n.28-47541T>C | |
| ENST00000399233.6:c.28-47541T>C | ENSP00000382179.3:n.28-47541T>C | |
| ENST00000553916.5:c.28-47541T>C | ENSP00000451109.1:n.28-47541T>C | |
| ENST00000556196.5:c.28-47541T>C | ENSP00000451178.1:n.28-47541T>C | |
| ENST00000613858.4:c.28-47541T>C | ENSP00000481420.1:n.28-47541T>C | |
| NM_000259.3:c.28-47541T>C , LRG_86t1:c.28-47541T>C | NP_000250.3:n.28-47541T>C | |
| NM_001142495.1:c.28-47541T>C | NP_001135967.1:n.28-47541T>C | |
| XM_005254397.2:c.28-47541T>C | XP_005254454.1:n.28-47541T>C | |
| XM_011521606.1:c.33+43257T>C | XP_011519908.1:n.33+43257T>C | |
| XM_011521607.1:c.33+43257T>C | XP_011519909.1:n.33+43257T>C | |
| XM_011521608.1:c.33+43257T>C | XP_011519910.1:n.33+43257T>C | |
| XM_011521609.1:c.33+43257T>C | XP_011519911.1:n.33+43257T>C | |
| XM_011521610.1:c.33+43257T>C | XP_011519912.1:n.33+43257T>C | |
| XM_011521611.1:c.33+43257T>C | XP_011519913.1:n.33+43257T>C | |
| XM_011521612.1:c.33+43257T>C | XP_011519914.1:n.33+43257T>C | |
| XM_005254397.4:c.28-47541T>C | XP_005254454.1:n.28-47541T>C | |
| XM_011521606.2:c.99+43257T>C | XP_011519908.2:n.99+43257T>C | |
| XM_011521607.3:c.99+43257T>C | XP_011519909.2:n.99+43257T>C | |
| XM_011521608.3:c.99+43257T>C | XP_011519910.2:n.99+43257T>C | |
| XM_011521609.3:c.99+43257T>C | XP_011519911.2:n.99+43257T>C | |
| XM_011521610.3:c.99+43257T>C | XP_011519912.2:n.99+43257T>C | |
| XM_011521611.3:c.99+43257T>C | XP_011519913.2:n.99+43257T>C | |
| XM_011521612.3:c.99+43257T>C | XP_011519914.2:n.99+43257T>C | |
| XM_017022227.2:c.99+43257T>C | XP_016877716.1:n.99+43257T>C | |
| NM_001142495.2:c.28-47541T>C | NP_001135967.2:n.28-47541T>C | |
| NM_001382347.1:c.28-47541T>C MANE Select | NP_001369276.1:n.28-47541T>C | |
| NM_001382348.1:c.99+43257T>C | NP_001369277.1:n.99+43257T>C | |
| NM_001382349.1:c.99+43257T>C | NP_001369278.1:n.99+43257T>C |