Linked Data
ClinVar Variation Id:
2827335
ClinVar RCV Id:
RCV003631828
dbSNP Id:
rs1050010905
gnomAD v2:
2-238245167-G-A
gnomAD v3:
2-237336524-G-A
gnomAD v4:
2-237336524-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336524G>A , CM000664.2:g.237336524G>A | GRCh38 |
| NC_000002.11:g.238245167G>A , CM000664.1:g.238245167G>A | GRCh37 |
| NC_000002.10:g.237909906G>A | NCBI36 |
| NG_008676.1:g.82684C>T , LRG_473:g.82684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1221C>T | ||
| ENST00000353578.9:c.7958C>T | ENSP00000315873.4:p.Pro2653Leu | |
| ENST00000682957.1:c.703C>T | ||
| ENST00000684508.1:n.843C>T | ||
| ENST00000295550.9:c.8576C>T MANE Select | ENSP00000295550.4:p.Pro2859Leu | |
| ENST00000295550.8:c.8576C>T | ENSP00000295550.4:p.Pro2859Leu | |
| ENST00000347401.7:c.6752C>T | ENSP00000315609.4:p.Pro2251Leu | |
| ENST00000353578.8:c.7958C>T | ENSP00000315873.4:p.Pro2653Leu | |
| ENST00000409809.5:c.7958C>T | ENSP00000386844.1:p.Pro2653Leu | |
| ENST00000472056.5:c.6755C>T | ENSP00000418285.1:p.Pro2252Leu | |
| ENST00000491769.1:n.5018C>T | ||
| NM_004369.3:c.8576C>T , LRG_473t1:c.8576C>T | NP_004360.2:p.Pro2859Leu | |
| NM_057166.4:c.6755C>T | NP_476507.3:p.Pro2252Leu | |
| NM_057167.3:c.7958C>T | NP_476508.2:p.Pro2653Leu | |
| XM_005246065.1:c.7976C>T | XP_005246122.1:p.Pro2659Leu | |
| XM_005246066.1:c.7355C>T | XP_005246123.1:p.Pro2452Leu | |
| XM_006712253.1:c.8075C>T | XP_006712316.1:p.Pro2692Leu | |
| XM_011510574.1:c.8573C>T | XP_011508876.1:p.Pro2858Leu | |
| XM_011510575.1:c.6170C>T | XP_011508877.1:p.Pro2057Leu | |
| XM_017003304.1:c.6170C>T | XP_016858793.1:p.Pro2057Leu | |
| XM_024452684.1:c.7355C>T | XP_024308452.1:p.Pro2452Leu | |
| NM_004369.4:c.8576C>T MANE Select | NP_004360.2:p.Pro2859Leu | |
| NM_057166.5:c.6755C>T | NP_476507.3:p.Pro2252Leu | |
| NM_057167.4:c.7958C>T | NP_476508.2:p.Pro2653Leu |