Linked Data
ClinVar Variation Id:
502371
dbSNP Id:
rs376021820
ExAC:
2:238244897 G / A
gnomAD v2:
2-238244897-G-A
gnomAD v3:
2-237336254-G-A
gnomAD v4:
2-237336254-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336254G>A , CM000664.2:g.237336254G>A | GRCh38 |
| NC_000002.11:g.238244897G>A , CM000664.1:g.238244897G>A | GRCh37 |
| NC_000002.10:g.237909636G>A | NCBI36 |
| NG_008676.1:g.82954C>T , LRG_473:g.82954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1491C>T | ||
| ENST00000353578.9:c.8228C>T | ENSP00000315873.4:p.Pro2743Leu | |
| ENST00000682957.1:c.973C>T | ||
| ENST00000684508.1:n.1113C>T | ||
| ENST00000295550.9:c.8846C>T MANE Select | ENSP00000295550.4:p.Pro2949Leu | |
| ENST00000295550.8:c.8846C>T | ENSP00000295550.4:p.Pro2949Leu | |
| ENST00000347401.7:c.7022C>T | ENSP00000315609.4:p.Pro2341Leu | |
| ENST00000353578.8:c.8228C>T | ENSP00000315873.4:p.Pro2743Leu | |
| ENST00000409809.5:c.8228C>T | ENSP00000386844.1:p.Pro2743Leu | |
| ENST00000472056.5:c.7025C>T | ENSP00000418285.1:p.Pro2342Leu | |
| ENST00000491769.1:n.5288C>T | ||
| NM_004369.3:c.8846C>T , LRG_473t1:c.8846C>T | NP_004360.2:p.Pro2949Leu | |
| NM_057166.4:c.7025C>T | NP_476507.3:p.Pro2342Leu | |
| NM_057167.3:c.8228C>T | NP_476508.2:p.Pro2743Leu | |
| XM_005246065.1:c.8246C>T | XP_005246122.1:p.Pro2749Leu | |
| XM_005246066.1:c.7625C>T | XP_005246123.1:p.Pro2542Leu | |
| XM_006712253.1:c.8345C>T | XP_006712316.1:p.Pro2782Leu | |
| XM_011510574.1:c.8843C>T | XP_011508876.1:p.Pro2948Leu | |
| XM_011510575.1:c.6440C>T | XP_011508877.1:p.Pro2147Leu | |
| XM_017003304.1:c.6440C>T | XP_016858793.1:p.Pro2147Leu | |
| XM_024452684.1:c.7625C>T | XP_024308452.1:p.Pro2542Leu | |
| NM_004369.4:c.8846C>T MANE Select | NP_004360.2:p.Pro2949Leu | |
| NM_057166.5:c.7025C>T | NP_476507.3:p.Pro2342Leu | |
| NM_057167.4:c.8228C>T | NP_476508.2:p.Pro2743Leu |