Linked Data
ClinVar Variation Id:
48229
dbSNP Id:
rs186810296
ExAC:
2:26693460 C / T
gnomAD v2:
2-26693460-C-T
gnomAD v3:
2-26470592-C-T
gnomAD v4:
2-26470592-C-T
PubMed:
PMID:21935370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26470592C>T , CM000664.2:g.26470592C>T | GRCh38 |
| NC_000002.11:g.26693460C>T , CM000664.1:g.26693460C>T | GRCh37 |
| NC_000002.10:g.26546964C>T | NCBI36 |
| NG_009937.1:g.93107G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.4023+1G>A MANE Select | ENSP00000272371.2:n.4023+1G>A | |
| ENST00000339598.8:c.1722+1G>A MANE Plus Clinical | ENSP00000344521.3:n.1722+1G>A | |
| ENST00000402415.8:c.1782+1G>A | ENSP00000383906.4:n.1782+1G>A | |
| ENST00000272371.6:c.4023+1G>A | ENSP00000272371.2:n.4023+1G>A | |
| ENST00000338581.10:c.1722+1G>A | ENSP00000345137.6:n.1722+1G>A | |
| ENST00000339598.7:c.1722+1G>A | ENSP00000344521.3:n.1722+1G>A | |
| ENST00000402415.7:c.1953+1G>A | ENSP00000383906.3:n.1953+1G>A | |
| ENST00000403946.7:c.4023+1G>A | ENSP00000385255.3:n.4023+1G>A | |
| NM_001287489.1:c.4023+1G>A | NP_001274418.1:n.4023+1G>A | |
| NM_004802.3:c.1722+1G>A | NP_004793.2:n.1722+1G>A | |
| NM_194248.2:c.4023+1G>A | NP_919224.1:n.4023+1G>A | |
| NM_194322.2:c.1953+1G>A | NP_919303.1:n.1953+1G>A | |
| NM_194323.2:c.1722+1G>A | NP_919304.1:n.1722+1G>A | |
| XM_005264644.2:c.4008+1G>A | XP_005264701.1:n.4008+1G>A | |
| XM_011533185.1:c.4068+1G>A | XP_011531487.1:n.4068+1G>A | |
| XM_017005338.1:c.3963+1G>A | XP_016860827.1:n.3963+1G>A | |
| NM_001287489.2:c.4023+1G>A | NP_001274418.1:n.4023+1G>A | |
| NM_004802.4:c.1722+1G>A | NP_004793.2:n.1722+1G>A | |
| NM_194248.3:c.4023+1G>A MANE Select | NP_919224.1:n.4023+1G>A | |
| NM_194322.3:c.1953+1G>A | NP_919303.1:n.1953+1G>A | |
| NM_194323.3:c.1722+1G>A MANE Plus Clinical | NP_919304.1:n.1722+1G>A |