Linked Data
ClinVar Variation Id:
2814353
ClinVar RCV Id:
RCV003680901
dbSNP Id:
rs368970760
gnomAD v2:
2-26683081-A-G
gnomAD v3:
2-26460213-A-G
gnomAD v4:
2-26460213-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26460213A>G , CM000664.2:g.26460213A>G | GRCh38 |
| NC_000002.11:g.26683081A>G , CM000664.1:g.26683081A>G | GRCh37 |
| NC_000002.10:g.26536585A>G | NCBI36 |
| NG_009937.1:g.103486T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.5814-8T>C MANE Select | ENSP00000272371.2:n.5814-8T>C | |
| ENST00000339598.8:c.3512+434T>C MANE Plus Clinical | ENSP00000344521.3:n.3512+434T>C | |
| ENST00000402415.8:c.3573-8T>C | ENSP00000383906.4:n.3573-8T>C | |
| ENST00000272371.6:c.5814-8T>C | ENSP00000272371.2:n.5814-8T>C | |
| ENST00000338581.10:c.3513-8T>C | ENSP00000345137.6:n.3513-8T>C | |
| ENST00000339598.7:c.3512+434T>C | ENSP00000344521.3:n.3512+434T>C | |
| ENST00000402415.7:c.3744-8T>C | ENSP00000383906.3:n.3744-8T>C | |
| ENST00000403946.7:c.5813+434T>C | ENSP00000385255.3:n.5813+434T>C | |
| NM_001287489.1:c.5813+434T>C | NP_001274418.1:n.5813+434T>C | |
| NM_004802.3:c.3513-8T>C | NP_004793.2:n.3513-8T>C | |
| NM_194248.2:c.5814-8T>C | NP_919224.1:n.5814-8T>C | |
| NM_194322.2:c.3744-8T>C | NP_919303.1:n.3744-8T>C | |
| NM_194323.2:c.3512+434T>C | NP_919304.1:n.3512+434T>C | |
| XM_005264644.2:c.5798+434T>C | XP_005264701.1:n.5798+434T>C | |
| XM_011533185.1:c.5858+434T>C | XP_011531487.1:n.5858+434T>C | |
| XM_017005338.1:c.5754-8T>C | XP_016860827.1:n.5754-8T>C | |
| NM_001287489.2:c.5813+434T>C | NP_001274418.1:n.5813+434T>C | |
| NM_004802.4:c.3513-8T>C | NP_004793.2:n.3513-8T>C | |
| NM_194248.3:c.5814-8T>C MANE Select | NP_919224.1:n.5814-8T>C | |
| NM_194322.3:c.3744-8T>C | NP_919303.1:n.3744-8T>C | |
| NM_194323.3:c.3512+434T>C MANE Plus Clinical | NP_919304.1:n.3512+434T>C |