Linked Data
dbSNP Id:
rs17882210
gnomAD v2:
3-3118498-A-G
gnomAD v3:
3-3076814-A-G
gnomAD v4:
3-3076814-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3076814A>G , CM000665.2:g.3076814A>G | GRCh38 |
| NC_000003.11:g.3118498A>G , CM000665.1:g.3118498A>G | GRCh37 |
| NC_000003.10:g.3093498A>G | NCBI36 |
| NG_029547.1:g.38561T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446632.7:c.995-187T>C MANE Select | ENSP00000412209.2:n.995-187T>C | |
| ENST00000256452.7:c.995-187T>C | ENSP00000256452.3:n.995-187T>C | |
| ENST00000418488.6:c.710-187T>C | ENSP00000388858.2:n.710-187T>C | |
| ENST00000438560.5:c.995-187T>C | ENSP00000390753.1:n.995-187T>C | |
| ENST00000446632.6:c.995-187T>C | ENSP00000412209.2:n.995-187T>C | |
| NM_000564.4:c.995-187T>C | NP_000555.2:n.995-187T>C | |
| NM_001243099.1:c.995-187T>C | NP_001230028.1:n.995-187T>C | |
| NM_175726.3:c.995-187T>C | NP_783853.1:n.995-187T>C | |
| XM_011533677.1:c.995-187T>C | XP_011531979.1:n.995-187T>C | |
| XM_011533678.1:c.995-187T>C | XP_011531980.1:n.995-187T>C | |
| XM_011533677.2:c.995-187T>C | XP_011531979.1:n.995-187T>C | |
| XM_011533678.2:c.995-187T>C | XP_011531980.1:n.995-187T>C | |
| NM_000564.5:c.995-187T>C | NP_000555.2:n.995-187T>C | |
| NM_001243099.2:c.995-187T>C | NP_001230028.1:n.995-187T>C | |
| NM_175726.4:c.995-187T>C MANE Select | NP_783853.1:n.995-187T>C |