Linked Data
ClinVar Variation Id:
285587
ClinVar RCV Id:
RCV000371185
dbSNP Id:
rs199723531
ExAC:
2:238253492 G / T
gnomAD v2:
2-238253492-G-T
gnomAD v3:
2-237344849-G-T
gnomAD v4:
2-237344849-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344849G>T , CM000664.2:g.237344849G>T | GRCh38 |
| NC_000002.11:g.238253492G>T , CM000664.1:g.238253492G>T | GRCh37 |
| NC_000002.10:g.237918231G>T | NCBI36 |
| NG_008676.1:g.74359C>A , LRG_473:g.74359C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6557-6C>A | ENSP00000315873.4:n.6557-6C>A | |
| ENST00000295550.9:c.7175-6C>A MANE Select | ENSP00000295550.4:n.7175-6C>A | |
| ENST00000295550.8:c.7175-6C>A | ENSP00000295550.4:n.7175-6C>A | |
| ENST00000347401.7:c.5346C>A | ENSP00000315609.4:p.Phe1782Leu | |
| ENST00000353578.8:c.6557-6C>A | ENSP00000315873.4:n.6557-6C>A | |
| ENST00000409809.5:c.6557-6C>A | ENSP00000386844.1:n.6557-6C>A | |
| ENST00000472056.5:c.5354-6C>A | ENSP00000418285.1:n.5354-6C>A | |
| ENST00000491769.1:n.1429-6C>A | ||
| NM_004369.3:c.7175-6C>A , LRG_473t1:c.7175-6C>A | NP_004360.2:n.7175-6C>A | |
| NM_057166.4:c.5354-6C>A | NP_476507.3:n.5354-6C>A | |
| NM_057167.3:c.6557-6C>A | NP_476508.2:n.6557-6C>A | |
| XM_005246065.1:c.6575-6C>A | XP_005246122.1:n.6575-6C>A | |
| XM_005246066.1:c.5954-6C>A | XP_005246123.1:n.5954-6C>A | |
| XM_006712253.1:c.6674-6C>A | XP_006712316.1:n.6674-6C>A | |
| XM_011510574.1:c.7172-6C>A | XP_011508876.1:n.7172-6C>A | |
| XM_011510575.1:c.4769-6C>A | XP_011508877.1:n.4769-6C>A | |
| XM_017003304.1:c.4769-6C>A | XP_016858793.1:n.4769-6C>A | |
| XM_024452684.1:c.5954-6C>A | XP_024308452.1:n.5954-6C>A | |
| NM_004369.4:c.7175-6C>A MANE Select | NP_004360.2:n.7175-6C>A | |
| NM_057166.5:c.5354-6C>A | NP_476507.3:n.5354-6C>A | |
| NM_057167.4:c.6557-6C>A | NP_476508.2:n.6557-6C>A |