Linked Data
dbSNP Id:
rs1427440983
gnomAD v2:
17-2579718-A-G
gnomAD v3:
17-2676424-A-G
gnomAD v4:
17-2676424-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2676424A>G , CM000679.2:g.2676424A>G | GRCh38 |
| NC_000017.10:g.2579718A>G , CM000679.1:g.2579718A>G | GRCh37 |
| NC_000017.9:g.2526468A>G | NCBI36 |
| NG_009799.1:g.87796A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.901-81A>G MANE Select | ENSP00000380378.4:n.901-81A>G | |
| ENST00000571495.2:n.1986-81A>G | ||
| ENST00000674608.1:c.955-81A>G | ENSP00000501976.1:n.955-81A>G | |
| ENST00000674717.1:c.706-81A>G | ENSP00000501931.1:n.706-81A>G | |
| ENST00000675084.1:n.74A>G | ||
| ENST00000675202.1:c.901-81A>G | ENSP00000502843.1:n.901-81A>G | |
| ENST00000675331.1:c.901-81A>G | ENSP00000502031.1:n.901-81A>G | |
| ENST00000675385.1:n.434A>G | ||
| ENST00000675390.1:c.901-81A>G | ENSP00000501969.1:n.901-81A>G | |
| ENST00000675574.1:n.3875A>G | ||
| ENST00000675621.1:c.901-81A>G | ENSP00000502117.1:n.901-81A>G | |
| ENST00000675764.1:c.*855-81A>G | ENSP00000502242.1:n.*855-81A>G | |
| ENST00000676077.1:c.*219-81A>G | ENSP00000502507.1:n.*219-81A>G | |
| ENST00000676098.1:c.901-81A>G | ENSP00000502735.1:n.901-81A>G | |
| ENST00000676188.1:c.901-81A>G | ENSP00000502577.1:n.901-81A>G | |
| ENST00000676353.1:c.706-81A>G | ENSP00000502737.1:n.706-81A>G | |
| ENST00000397193.7:n.709-81A>G | ||
| ENST00000397195.9:c.901-81A>G | ENSP00000380378.4:n.901-81A>G | |
| ENST00000571495.1:n.625-81A>G | ||
| ENST00000572915.6:n.676+2328A>G | ||
| ENST00000574468.1:c.396+2136A>G | ENSP00000460591.1:n.396+2136A>G | |
| ENST00000574816.5:n.141A>G | ||
| NM_000430.3:c.901-81A>G | NP_000421.1:n.901-81A>G | |
| XM_011523901.1:c.955-81A>G | XP_011522203.1:n.955-81A>G | |
| XM_011523902.1:c.955-81A>G | XP_011522204.1:n.955-81A>G | |
| XM_011523903.1:c.955-81A>G | XP_011522205.1:n.955-81A>G | |
| XM_011523901.2:c.955-81A>G | XP_011522203.1:n.955-81A>G | |
| XM_011523902.3:c.955-81A>G | XP_011522204.1:n.955-81A>G | |
| XM_011523903.2:c.955-81A>G | XP_011522205.1:n.955-81A>G | |
| XM_017024701.1:c.901-81A>G | XP_016880190.1:n.901-81A>G | |
| XM_017024702.2:c.706-81A>G | XP_016880191.1:n.706-81A>G | |
| NM_000430.4:c.901-81A>G MANE Select | NP_000421.1:n.901-81A>G |