Linked Data
ClinVar Variation Id:
3025773
ClinVar RCV Id:
RCV003885161
dbSNP Id:
rs151124575
ExAC:
12:116399156 G / A
gnomAD v2:
12-116399156-G-A
gnomAD v3:
12-115961351-G-A
gnomAD v4:
12-115961351-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115961351G>A , CM000674.2:g.115961351G>A | GRCh38 |
| NC_000012.11:g.116399156G>A , CM000674.1:g.116399156G>A | GRCh37 |
| NC_000012.10:g.114883539G>A | NCBI36 |
| NG_023366.1:g.320836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.6548C>T MANE Select | ENSP00000281928.3:p.Pro2183Leu | |
| ENST00000548784.2:n.2762C>T | ||
| ENST00000648379.1:n.4916C>T | ||
| ENST00000648737.1:n.6312C>T | ||
| ENST00000648762.1:n.1238C>T | ||
| ENST00000648825.1:n.4733C>T | ||
| ENST00000648916.1:n.4559C>T | ||
| ENST00000649607.1:c.4732C>T | ||
| ENST00000649775.1:c.2879C>T | ||
| ENST00000649937.1:n.191C>T | ||
| ENST00000650226.1:c.6584C>T | ENSP00000496981.1:p.Pro2195Leu | |
| ENST00000281928.7:c.6548C>T | ENSP00000281928.3:p.Pro2183Leu | |
| NM_015335.4:c.6548C>T | NP_056150.1:p.Pro2183Leu | |
| XM_011538080.1:c.6584C>T | XP_011536382.1:p.Pro2195Leu | |
| XM_011538081.1:c.6581C>T | XP_011536383.1:p.Pro2194Leu | |
| XM_011538082.1:c.6554C>T | XP_011536384.1:p.Pro2185Leu | |
| XM_011538080.2:c.6584C>T | XP_011536382.1:p.Pro2195Leu | |
| XM_011538081.2:c.6581C>T | XP_011536383.1:p.Pro2194Leu | |
| XM_011538082.2:c.6554C>T | XP_011536384.1:p.Pro2185Leu | |
| XM_017019090.1:c.6545C>T | XP_016874579.1:p.Pro2182Leu | |
| NM_015335.5:c.6548C>T MANE Select | NP_056150.1:p.Pro2183Leu |