Linked Data
ClinVar Variation Id:
1904065
ClinVar RCV Id:
RCV002574169
dbSNP Id:
rs1381038824
gnomAD v2:
2-238245005-G-T
gnomAD v3:
2-237336362-G-T
gnomAD v4:
2-237336362-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336362G>T , CM000664.2:g.237336362G>T | GRCh38 |
| NC_000002.11:g.238245005G>T , CM000664.1:g.238245005G>T | GRCh37 |
| NC_000002.10:g.237909744G>T | NCBI36 |
| NG_008676.1:g.82846C>A , LRG_473:g.82846C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1383C>A | ||
| ENST00000353578.9:c.8120C>A | ENSP00000315873.4:p.Ala2707Asp | |
| ENST00000682957.1:c.865C>A | ||
| ENST00000684508.1:n.1005C>A | ||
| ENST00000295550.9:c.8738C>A MANE Select | ENSP00000295550.4:p.Ala2913Asp | |
| ENST00000295550.8:c.8738C>A | ENSP00000295550.4:p.Ala2913Asp | |
| ENST00000347401.7:c.6914C>A | ENSP00000315609.4:p.Ala2305Asp | |
| ENST00000353578.8:c.8120C>A | ENSP00000315873.4:p.Ala2707Asp | |
| ENST00000409809.5:c.8120C>A | ENSP00000386844.1:p.Ala2707Asp | |
| ENST00000472056.5:c.6917C>A | ENSP00000418285.1:p.Ala2306Asp | |
| ENST00000491769.1:n.5180C>A | ||
| NM_004369.3:c.8738C>A , LRG_473t1:c.8738C>A | NP_004360.2:p.Ala2913Asp | |
| NM_057166.4:c.6917C>A | NP_476507.3:p.Ala2306Asp | |
| NM_057167.3:c.8120C>A | NP_476508.2:p.Ala2707Asp | |
| XM_005246065.1:c.8138C>A | XP_005246122.1:p.Ala2713Asp | |
| XM_005246066.1:c.7517C>A | XP_005246123.1:p.Ala2506Asp | |
| XM_006712253.1:c.8237C>A | XP_006712316.1:p.Ala2746Asp | |
| XM_011510574.1:c.8735C>A | XP_011508876.1:p.Ala2912Asp | |
| XM_011510575.1:c.6332C>A | XP_011508877.1:p.Ala2111Asp | |
| XM_017003304.1:c.6332C>A | XP_016858793.1:p.Ala2111Asp | |
| XM_024452684.1:c.7517C>A | XP_024308452.1:p.Ala2506Asp | |
| NM_004369.4:c.8738C>A MANE Select | NP_004360.2:p.Ala2913Asp | |
| NM_057166.5:c.6917C>A | NP_476507.3:p.Ala2306Asp | |
| NM_057167.4:c.8120C>A | NP_476508.2:p.Ala2707Asp |