Linked Data
ClinVar Variation Id:
2691708
ClinVar RCV Id:
RCV003490900
dbSNP Id:
rs111033342
gnomAD v2:
2-26690102-C-A
gnomAD v4:
2-26467234-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26467234C>A , CM000664.2:g.26467234C>A | GRCh38 |
| NC_000002.11:g.26690102C>A , CM000664.1:g.26690102C>A | GRCh37 |
| NC_000002.10:g.26543606C>A | NCBI36 |
| NG_009937.1:g.96465G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.4228-1G>T MANE Select | ENSP00000272371.2:n.4228-1G>T | |
| ENST00000339598.8:c.1927-1G>T MANE Plus Clinical | ENSP00000344521.3:n.1927-1G>T | |
| ENST00000402415.8:c.1987-1G>T | ENSP00000383906.4:n.1987-1G>T | |
| ENST00000272371.6:c.4228-1G>T | ENSP00000272371.2:n.4228-1G>T | |
| ENST00000338581.10:c.1927-1G>T | ENSP00000345137.6:n.1927-1G>T | |
| ENST00000339598.7:c.1927-1G>T | ENSP00000344521.3:n.1927-1G>T | |
| ENST00000402415.7:c.2158-1G>T | ENSP00000383906.3:n.2158-1G>T | |
| ENST00000403946.7:c.4228-1G>T | ENSP00000385255.3:n.4228-1G>T | |
| NM_001287489.1:c.4228-1G>T | NP_001274418.1:n.4228-1G>T | |
| NM_004802.3:c.1927-1G>T | NP_004793.2:n.1927-1G>T | |
| NM_194248.2:c.4228-1G>T | NP_919224.1:n.4228-1G>T | |
| NM_194322.2:c.2158-1G>T | NP_919303.1:n.2158-1G>T | |
| NM_194323.2:c.1927-1G>T | NP_919304.1:n.1927-1G>T | |
| XM_005264644.2:c.4213-1G>T | XP_005264701.1:n.4213-1G>T | |
| XM_011533185.1:c.4273-1G>T | XP_011531487.1:n.4273-1G>T | |
| XM_017005338.1:c.4168-1G>T | XP_016860827.1:n.4168-1G>T | |
| NM_001287489.2:c.4228-1G>T | NP_001274418.1:n.4228-1G>T | |
| NM_004802.4:c.1927-1G>T | NP_004793.2:n.1927-1G>T | |
| NM_194248.3:c.4228-1G>T MANE Select | NP_919224.1:n.4228-1G>T | |
| NM_194322.3:c.2158-1G>T | NP_919303.1:n.2158-1G>T | |
| NM_194323.3:c.1927-1G>T MANE Plus Clinical | NP_919304.1:n.1927-1G>T |