Linked Data
dbSNP Id:
rs2551043
gnomAD v2:
8-3189896-A-G
gnomAD v3:
8-3332374-A-G
gnomAD v4:
8-3332374-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.3332374A>G , CM000670.2:g.3332374A>G | GRCh38 |
| NC_000008.10:g.3189896A>G , CM000670.1:g.3189896A>G | GRCh37 |
| NC_000008.9:g.3177303A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635120.2:c.3631+10920T>C MANE Select | ENSP00000489225.1:n.3631+10920T>C | |
| ENST00000335551.11:c.2072+10920T>C | ||
| ENST00000400186.7:c.3634+10920T>C | ENSP00000383047.3:n.3634+10920T>C | |
| ENST00000520002.5:c.3634+10920T>C | ENSP00000430733.1:n.3634+10920T>C | |
| ENST00000523488.5:n.1164+10920T>C | ||
| ENST00000537824.2:c.3217+10920T>C | ENSP00000441462.2:n.3217+10920T>C | |
| ENST00000602557.5:c.3634+10920T>C | ENSP00000473359.1:n.3634+10920T>C | |
| ENST00000602723.5:c.3634+10920T>C | ENSP00000473617.1:n.3634+10920T>C | |
| ENST00000635120.1:c.3631+10920T>C | ENSP00000489225.1:n.3631+10920T>C | |
| NM_033225.5:c.3631+10920T>C | NP_150094.5:n.3631+10920T>C | |
| XM_011534752.1:c.3631+10920T>C | XP_011533054.1:n.3631+10920T>C | |
| XM_011534753.1:c.724+10920T>C | XP_011533055.1:n.724+10920T>C | |
| XM_011534752.2:c.3631+10920T>C | XP_011533054.1:n.3631+10920T>C | |
| XM_011534753.3:c.724+10920T>C | XP_011533055.1:n.724+10920T>C | |
| XM_017013731.1:c.3631+10920T>C | XP_016869220.1:n.3631+10920T>C | |
| NM_033225.6:c.3631+10920T>C MANE Select | NP_150094.5:n.3631+10920T>C |