Linked Data
ClinVar Variation Id:
343751
ClinVar RCV Id:
RCV000337784
dbSNP Id:
rs17847022
ExAC:
3:148896383 A / G
gnomAD v2:
3-148896383-A-G
gnomAD v3:
3-149178596-A-G
gnomAD v4:
3-149178596-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149178596A>G , CM000665.2:g.149178596A>G | GRCh38 |
| NC_000003.11:g.148896383A>G , CM000665.1:g.148896383A>G | GRCh37 |
| NC_000003.10:g.150379073A>G | NCBI36 |
| NG_011800.1:g.48450T>C | |
| NG_011800.2:g.48450T>C | |
| NG_011800.3:g.48450T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2697T>C MANE Select | ENSP00000264613.6:p.Val899= | |
| ENST00000264613.10:c.2697T>C | ENSP00000264613.6:p.Val899= | |
| ENST00000460674.5:n.614T>C | ||
| ENST00000463556.5:n.219T>C | ||
| ENST00000479771.5:c.102T>C | ENSP00000420367.1:p.Val34= | |
| ENST00000481169.5:c.2484T>C | ENSP00000418773.1:p.Val828= | |
| ENST00000490639.5:n.2729T>C | ||
| ENST00000494544.1:c.2046T>C | ENSP00000420545.1:p.Val682= | |
| NM_000096.3:c.2697T>C | NP_000087.1:p.Val899= | |
| NR_046371.1:n.2737T>C | ||
| XM_006713499.2:c.2697T>C | XP_006713562.1:p.Val899= | |
| XM_006713500.2:c.2697T>C | XP_006713563.1:p.Val899= | |
| XM_006713501.2:c.2697T>C | XP_006713564.1:p.Val899= | |
| XM_011512435.1:c.2697T>C | XP_011510737.1:p.Val899= | |
| XR_427361.2:n.2955T>C | ||
| XM_006713499.3:c.2697T>C | XP_006713562.1:p.Val899= | |
| XM_006713500.4:c.2697T>C | XP_006713563.1:p.Val899= | |
| XM_006713501.3:c.2697T>C | XP_006713564.1:p.Val899= | |
| XM_011512435.2:c.2697T>C | XP_011510737.1:p.Val899= | |
| XM_017005734.2:c.2697T>C | XP_016861223.1:p.Val899= | |
| XM_017005735.2:c.2697T>C | XP_016861224.1:p.Val899= | |
| XR_427361.3:n.2913T>C | ||
| NM_000096.4:c.2697T>C MANE Select | NP_000087.2:p.Val899= | |
| NR_046371.2:n.2521T>C |