Linked Data
dbSNP Id:
rs766971678
ExAC:
2:165954045 C / G
gnomAD v2:
2-165954045-C-G
gnomAD v4:
2-165097535-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165097535C>G , CM000664.2:g.165097535C>G | GRCh38 |
| NC_000002.11:g.165954045C>G , CM000664.1:g.165954045C>G | GRCh37 |
| NC_000002.10:g.165662291C>G | NCBI36 |
| NG_042289.1:g.111554G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706067.1:c.3916-11G>C | ENSP00000516211.1:n.3916-11G>C | |
| ENST00000283254.12:c.3967-11G>C MANE Select | ENSP00000283254.7:n.3967-11G>C | |
| ENST00000638473.1:c.*1808-11G>C | ENSP00000491552.1:n.*1808-11G>C | |
| ENST00000639244.1:c.3916-11G>C | ENSP00000492251.1:n.3916-11G>C | |
| ENST00000640652.1:c.*701-11G>C | ENSP00000492807.1:n.*701-11G>C | |
| ENST00000658209.1:c.2176-11G>C | ENSP00000499598.1:n.2176-11G>C | |
| ENST00000283254.11:c.3967-11G>C | ENSP00000283254.7:n.3967-11G>C | |
| ENST00000360093.7:c.3967-11G>C | ENSP00000353206.3:n.3967-11G>C | |
| ENST00000409101.7:c.3820-11G>C | ENSP00000386726.3:n.3820-11G>C | |
| ENST00000440431.6:c.3820-11G>C | ENSP00000403348.1:n.3820-11G>C | |
| ENST00000471697.1:n.80G>C | ||
| NM_001081676.1:c.3820-11G>C | NP_001075145.1:n.3820-11G>C | |
| NM_001081677.1:c.3820-11G>C | NP_001075146.1:n.3820-11G>C | |
| NM_006922.3:c.3967-11G>C | NP_008853.3:n.3967-11G>C | |
| XM_006712679.1:c.3967-11G>C | XP_006712742.1:n.3967-11G>C | |
| XM_011511610.1:c.3967-11G>C | XP_011509912.1:n.3967-11G>C | |
| XM_011511611.1:c.3967-11G>C | XP_011509913.1:n.3967-11G>C | |
| XM_011511612.1:c.3916-11G>C | XP_011509914.1:n.3916-11G>C | |
| XM_011511613.1:c.2077-11G>C | XP_011509915.1:n.2077-11G>C | |
| XM_011511610.3:c.3967-11G>C | XP_011509912.1:n.3967-11G>C | |
| XM_011511613.3:c.2077-11G>C | XP_011509915.1:n.2077-11G>C | |
| XM_017004660.2:c.3967-11G>C | XP_016860149.1:n.3967-11G>C | |
| XM_017004661.2:c.3916-11G>C | XP_016860150.1:n.3916-11G>C | |
| XM_017004662.2:c.3829-11G>C | XP_016860151.1:n.3829-11G>C | |
| XM_017004663.2:c.2077-11G>C | XP_016860152.1:n.2077-11G>C | |
| NM_006922.4:c.3967-11G>C MANE Select | NP_008853.3:n.3967-11G>C | |
| NM_001081676.2:c.3820-11G>C | NP_001075145.1:n.3820-11G>C | |
| NM_001081677.2:c.3820-11G>C | NP_001075146.1:n.3820-11G>C |