Linked Data
dbSNP Id:
rs521102
ExAC:
11:125514573 G / A
gnomAD v2:
11-125514573-G-A
gnomAD v3:
11-125644678-G-A
gnomAD v4:
11-125644678-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125644678G>A , CM000673.2:g.125644678G>A | GRCh38 |
| NC_000011.9:g.125514573G>A , CM000673.1:g.125514573G>A | GRCh37 |
| NC_000011.8:g.125019783G>A | NCBI36 |
| NG_030049.1:g.24543G>A | |
| NG_030049.2:g.24543G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711049.1:c.1281+35G>A | ENSP00000518558.1:n.1281+35G>A | |
| ENST00000438015.7:c.1233+35G>A MANE Select | ENSP00000388648.1:n.1233+35G>A | |
| ENST00000278916.8:c.1233+35G>A | ENSP00000278916.4:n.1233+35G>A | |
| ENST00000438015.6:c.1233+35G>A | ENSP00000388648.1:n.1233+35G>A | |
| ENST00000524737.6:c.1233+35G>A | ENSP00000432890.1:n.1233+35G>A | |
| ENST00000532449.6:c.1233+35G>A | ENSP00000481616.2:n.1233+35G>A | |
| ENST00000278916.7:c.1101+410G>A | ENSP00000278916.3:n.1101+410G>A | |
| ENST00000427383.6:c.1281+35G>A | ENSP00000391090.2:n.1281+35G>A | |
| ENST00000428830.6:c.1233+35G>A | ENSP00000412504.2:n.1233+35G>A | |
| ENST00000438015.5:c.1233+35G>A | ENSP00000388648.1:n.1233+35G>A | |
| ENST00000498122.4:c.72+35G>A | ENSP00000481614.1:n.72+35G>A | |
| ENST00000524737.5:c.1233+35G>A | ENSP00000432890.1:n.1233+35G>A | |
| ENST00000528276.1:n.1350+35G>A | ||
| ENST00000532449.5:c.1233+35G>A | ENSP00000481616.1:n.1233+35G>A | |
| ENST00000534070.5:c.1233+35G>A | ENSP00000435371.1:n.1233+35G>A | |
| ENST00000544373.5:c.951+35G>A | ENSP00000442317.2:n.951+35G>A | |
| NM_001114121.2:c.1233+35G>A | NP_001107593.1:n.1233+35G>A | |
| NM_001114122.2:c.1233+35G>A | NP_001107594.1:n.1233+35G>A | |
| NM_001244846.1:c.1233+35G>A | NP_001231775.1:n.1233+35G>A | |
| NM_001274.5:c.1233+35G>A | NP_001265.2:n.1233+35G>A | |
| NR_045204.1:n.1906+35G>A | ||
| NR_045205.1:n.1667+35G>A | ||
| XM_011542560.1:c.1281+35G>A | XP_011540862.1:n.1281+35G>A | |
| XM_011542561.1:c.1281+35G>A | XP_011540863.1:n.1281+35G>A | |
| XM_011542562.1:c.1032+35G>A | XP_011540864.1:n.1032+35G>A | |
| XM_011542563.1:c.951+35G>A | XP_011540865.1:n.951+35G>A | |
| NM_001330427.1:c.1281+35G>A | NP_001317356.1:n.1281+35G>A | |
| NM_001330428.1:c.951+35G>A | NP_001317357.1:n.951+35G>A | |
| XM_011542560.2:c.1281+35G>A | XP_011540862.1:n.1281+35G>A | |
| XM_017017146.2:c.1233+35G>A | XP_016872635.1:n.1233+35G>A | |
| XM_024448337.1:c.1233+35G>A | XP_024304105.1:n.1233+35G>A | |
| NM_001114122.3:c.1233+35G>A MANE Select | NP_001107594.1:n.1233+35G>A | |
| NM_001330427.2:c.930+35G>A | NP_001317356.2:n.930+35G>A |