Linked Data
ClinVar Variation Id:
2417385
ClinVar RCV Id:
RCV003114854
dbSNP Id:
rs766551222
gnomAD v4:
2-237336239-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336239G>T , CM000664.2:g.237336239G>T | GRCh38 |
| NC_000002.11:g.238244882G>T , CM000664.1:g.238244882G>T | GRCh37 |
| NC_000002.10:g.237909621G>T | NCBI36 |
| NG_008676.1:g.82969C>A , LRG_473:g.82969C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1506C>A | ||
| ENST00000353578.9:c.8243C>A | ENSP00000315873.4:p.Pro2748His | |
| ENST00000682957.1:c.988C>A | ||
| ENST00000684508.1:n.1128C>A | ||
| ENST00000295550.9:c.8861C>A MANE Select | ENSP00000295550.4:p.Pro2954His | |
| ENST00000295550.8:c.8861C>A | ENSP00000295550.4:p.Pro2954His | |
| ENST00000347401.7:c.7037C>A | ENSP00000315609.4:p.Pro2346His | |
| ENST00000353578.8:c.8243C>A | ENSP00000315873.4:p.Pro2748His | |
| ENST00000409809.5:c.8243C>A | ENSP00000386844.1:p.Pro2748His | |
| ENST00000472056.5:c.7040C>A | ENSP00000418285.1:p.Pro2347His | |
| ENST00000491769.1:n.5303C>A | ||
| NM_004369.3:c.8861C>A , LRG_473t1:c.8861C>A | NP_004360.2:p.Pro2954His | |
| NM_057166.4:c.7040C>A | NP_476507.3:p.Pro2347His | |
| NM_057167.3:c.8243C>A | NP_476508.2:p.Pro2748His | |
| XM_005246065.1:c.8261C>A | XP_005246122.1:p.Pro2754His | |
| XM_005246066.1:c.7640C>A | XP_005246123.1:p.Pro2547His | |
| XM_006712253.1:c.8360C>A | XP_006712316.1:p.Pro2787His | |
| XM_011510574.1:c.8858C>A | XP_011508876.1:p.Pro2953His | |
| XM_011510575.1:c.6455C>A | XP_011508877.1:p.Pro2152His | |
| XM_017003304.1:c.6455C>A | XP_016858793.1:p.Pro2152His | |
| XM_024452684.1:c.7640C>A | XP_024308452.1:p.Pro2547His | |
| NM_004369.4:c.8861C>A MANE Select | NP_004360.2:p.Pro2954His | |
| NM_057166.5:c.7040C>A | NP_476507.3:p.Pro2347His | |
| NM_057167.4:c.8243C>A | NP_476508.2:p.Pro2748His |