Linked Data
dbSNP Id:
rs533556
gnomAD v2:
11-116741572-A-C
gnomAD v3:
11-116870856-A-C
gnomAD v4:
11-116870856-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116870856A>C , CM000673.2:g.116870856A>C | GRCh38 |
| NC_000011.9:g.116741572A>C , CM000673.1:g.116741572A>C | GRCh37 |
| NC_000011.8:g.116246782A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445177.6:c.1738-455T>G MANE Select | ENSP00000391295.2:n.1738-455T>G | |
| ENST00000375300.6:c.1738-455T>G | ENSP00000364449.1:n.1738-455T>G | |
| ENST00000375300.5:c.1738-455T>G | ENSP00000364449.1:n.1738-455T>G | |
| ENST00000413553.1:c.1445-455T>G | ||
| ENST00000415541.5:c.1718-455T>G | ENSP00000392761.1:n.1718-455T>G | |
| ENST00000445177.5:c.1718-455T>G | ||
| ENST00000446921.6:c.1594-455T>G | ENSP00000390442.2:n.1594-455T>G | |
| ENST00000480222.1:n.193-455T>G | ||
| NM_001281748.1:c.1261-455T>G | NP_001268677.1:n.1261-455T>G | |
| NM_001281749.1:c.1594-455T>G | NP_001268678.1:n.1594-455T>G | |
| NM_025164.4:c.1738-455T>G | NP_079440.3:n.1738-455T>G | |
| XM_005271481.2:c.1738-455T>G | XP_005271538.1:n.1738-455T>G | |
| XM_005271482.3:c.1594-455T>G | XP_005271539.2:n.1594-455T>G | |
| XM_005271484.3:c.1738-455T>G | XP_005271541.2:n.1738-455T>G | |
| XM_011542721.1:c.1738-455T>G | XP_011541023.1:n.1738-455T>G | |
| XM_011542722.1:c.1738-455T>G | XP_011541024.1:n.1738-455T>G | |
| XM_011542723.1:c.1261-455T>G | XP_011541025.1:n.1261-455T>G | |
| XM_011542724.1:c.1261-455T>G | XP_011541026.1:n.1261-455T>G | |
| XM_011542725.1:c.1261-455T>G | XP_011541027.1:n.1261-455T>G | |
| XM_011542726.1:c.1738-455T>G | XP_011541028.1:n.1738-455T>G | |
| NM_001281748.2:c.1261-455T>G | NP_001268677.1:n.1261-455T>G | |
| NM_001281749.2:c.1594-455T>G | NP_001268678.1:n.1594-455T>G | |
| NM_001366686.1:c.1738-455T>G | NP_001353615.1:n.1738-455T>G | |
| NM_025164.5:c.1738-455T>G | NP_079440.3:n.1738-455T>G | |
| XM_005271482.4:c.1594-455T>G | XP_005271539.2:n.1594-455T>G | |
| XM_011542723.2:c.1261-455T>G | XP_011541025.1:n.1261-455T>G | |
| XM_011542724.2:c.1261-455T>G | XP_011541026.1:n.1261-455T>G | |
| XM_011542725.2:c.1261-455T>G | XP_011541027.1:n.1261-455T>G | |
| XM_017017424.1:c.1594-455T>G | XP_016872913.1:n.1594-455T>G | |
| XM_017017425.1:c.1261-455T>G | XP_016872914.1:n.1261-455T>G | |
| XM_017017426.1:c.1261-455T>G | XP_016872915.1:n.1261-455T>G | |
| XM_017017427.1:c.-250-455T>G | XP_016872916.1:n.-250-455T>G | |
| XR_001747816.1:n.1776-455T>G | ||
| NM_001281748.3:c.1261-455T>G | NP_001268677.1:n.1261-455T>G | |
| NM_001281749.3:c.1594-455T>G | NP_001268678.1:n.1594-455T>G | |
| NM_001366686.2:c.1738-455T>G | NP_001353615.1:n.1738-455T>G | |
| NM_025164.6:c.1738-455T>G | NP_079440.3:n.1738-455T>G | |
| NM_001366686.3:c.1738-455T>G MANE Select | NP_001353615.1:n.1738-455T>G |