Linked Data
dbSNP Id:
rs6782799
gnomAD v2:
3-119610793-C-T
gnomAD v3:
3-119891946-C-T
gnomAD v4:
3-119891946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119891946C>T , CM000665.2:g.119891946C>T | GRCh38 |
| NC_000003.11:g.119610793C>T , CM000665.1:g.119610793C>T | GRCh37 |
| NC_000003.10:g.121093483C>T | NCBI36 |
| NG_012922.1:g.207472G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264235.13:c.813+13809G>A MANE Select | ENSP00000264235.9:n.813+13809G>A | |
| ENST00000316626.6:c.813+13809G>A | ENSP00000324806.5:n.813+13809G>A | |
| ENST00000650344.2:c.813+13809G>A | ENSP00000497956.2:n.813+13809G>A | |
| ENST00000676566.1:n.639+13809G>A | ||
| ENST00000676887.1:c.132-15438G>A | ENSP00000502977.1:n.132-15438G>A | |
| ENST00000676948.1:c.154+8612G>A | ||
| ENST00000677046.1:c.98+13809G>A | ||
| ENST00000677069.1:c.99-11448G>A | ||
| ENST00000677362.1:c.107+20758G>A | ||
| ENST00000677483.1:c.99-9112G>A | ||
| ENST00000677502.1:n.596+13809G>A | ||
| ENST00000677648.1:c.99-11436G>A | ||
| ENST00000677716.1:c.131+24098G>A | ENSP00000503671.1:n.131+24098G>A | |
| ENST00000677788.1:n.1283-11448G>A | ||
| ENST00000677995.1:c.326+13809G>A | ENSP00000504203.1:n.326+13809G>A | |
| ENST00000678013.1:c.98+13809G>A | ||
| ENST00000678181.1:c.85-28341G>A | ENSP00000504266.1:n.85-28341G>A | |
| ENST00000678377.1:c.229+13809G>A | ENSP00000503164.1:n.229+13809G>A | |
| ENST00000678439.1:c.813+13809G>A | ENSP00000503868.1:n.813+13809G>A | |
| ENST00000678509.1:c.99-9112G>A | ||
| ENST00000678561.1:c.486+13809G>A | ENSP00000503494.1:n.486+13809G>A | |
| ENST00000678754.1:n.99-7564G>A | ||
| ENST00000678787.1:c.195-15438G>A | ||
| ENST00000679066.1:c.85-15438G>A | ENSP00000503626.1:n.85-15438G>A | |
| ENST00000679188.1:c.112-15438G>A | ENSP00000504252.1:n.112-15438G>A | |
| ENST00000679194.1:c.108-15438G>A | ||
| ENST00000679206.1:c.131+24098G>A | ENSP00000502943.1:n.131+24098G>A | |
| ENST00000264235.12:c.813+13809G>A | ENSP00000264235.8:n.813+13809G>A | |
| ENST00000316626.5:c.813+13809G>A | ENSP00000324806.5:n.813+13809G>A | |
| NM_001146156.1:c.813+13809G>A | NP_001139628.1:n.813+13809G>A | |
| NM_002093.3:c.813+13809G>A | NP_002084.2:n.813+13809G>A | |
| XM_006713610.1:c.813+13809G>A | XP_006713673.1:n.813+13809G>A | |
| XM_006713611.1:c.813+13809G>A | XP_006713674.1:n.813+13809G>A | |
| NM_001354596.1:c.813+13809G>A | NP_001341525.1:n.813+13809G>A | |
| XM_006713610.3:c.813+13809G>A | XP_006713673.1:n.813+13809G>A | |
| NM_001146156.2:c.813+13809G>A MANE Select | NP_001139628.1:n.813+13809G>A | |
| NM_001354596.2:c.813+13809G>A | NP_001341525.1:n.813+13809G>A | |
| NM_002093.4:c.813+13809G>A | NP_002084.2:n.813+13809G>A |