Linked Data
dbSNP Id:
rs1260386986
gnomAD v2:
11-67352386-A-T
gnomAD v3:
11-67584915-A-T
gnomAD v4:
11-67584915-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584915A>T , CM000673.2:g.67584915A>T | GRCh38 |
| NC_000011.9:g.67352386A>T , CM000673.1:g.67352386A>T | GRCh37 |
| NC_000011.8:g.67108962A>T | NCBI36 |
| NG_012075.1:g.6321A>T , LRG_723:g.6321A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.232+143A>T | ENSP00000381604.1:n.232+143A>T | |
| ENST00000398606.10:c.232+143A>T MANE Select | ENSP00000381607.3:n.232+143A>T | |
| ENST00000646888.1:c.125+143A>T | ENSP00000494477.1:n.125+143A>T | |
| ENST00000398603.5:c.232+143A>T | ENSP00000381604.1:n.232+143A>T | |
| ENST00000398606.7:c.232+143A>T | ENSP00000381607.3:n.232+143A>T | |
| ENST00000467591.1:n.121A>T | ||
| ENST00000489040.1:n.374A>T | ||
| ENST00000494593.1:n.805A>T | ||
| ENST00000498765.5:c.196-123A>T | ||
| NM_000852.3:c.232+143A>T , LRG_723t1:c.232+143A>T | NP_000843.1:n.232+143A>T | |
| NM_000852.4:c.232+143A>T MANE Select | NP_000843.1:n.232+143A>T |