Linked Data
ClinVar Variation Id:
476548
dbSNP Id:
rs748768672
ExAC:
2:238263556 G / T
gnomAD v2:
2-238263556-G-T
gnomAD v3:
2-237354913-G-T
gnomAD v4:
2-237354913-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237354913G>T , CM000664.2:g.237354913G>T | GRCh38 |
| NC_000002.11:g.238263556G>T , CM000664.1:g.238263556G>T | GRCh37 |
| NC_000002.10:g.237928295G>T | NCBI36 |
| NG_008676.1:g.64295C>A , LRG_473:g.64295C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5995C>A | ENSP00000315873.4:p.Pro1999Thr | |
| ENST00000295550.9:c.6613C>A MANE Select | ENSP00000295550.4:p.Pro2205Thr | |
| ENST00000295550.8:c.6613C>A | ENSP00000295550.4:p.Pro2205Thr | |
| ENST00000347401.7:c.4792C>A | ENSP00000315609.4:p.Pro1598Thr | |
| ENST00000353578.8:c.5995C>A | ENSP00000315873.4:p.Pro1999Thr | |
| ENST00000409809.5:c.5995C>A | ENSP00000386844.1:p.Pro1999Thr | |
| ENST00000472056.5:c.4792C>A | ENSP00000418285.1:p.Pro1598Thr | |
| ENST00000491769.1:n.867C>A | ||
| NM_004369.3:c.6613C>A , LRG_473t1:c.6613C>A | NP_004360.2:p.Pro2205Thr | |
| NM_057166.4:c.4792C>A | NP_476507.3:p.Pro1598Thr | |
| NM_057167.3:c.5995C>A | NP_476508.2:p.Pro1999Thr | |
| XM_005246065.1:c.6013C>A | XP_005246122.1:p.Pro2005Thr | |
| XM_005246066.1:c.5392C>A | XP_005246123.1:p.Pro1798Thr | |
| XM_006712253.1:c.6112C>A | XP_006712316.1:p.Pro2038Thr | |
| XM_011510574.1:c.6610C>A | XP_011508876.1:p.Pro2204Thr | |
| XM_011510575.1:c.4207C>A | XP_011508877.1:p.Pro1403Thr | |
| XM_017003304.1:c.4207C>A | XP_016858793.1:p.Pro1403Thr | |
| XM_024452684.1:c.5392C>A | XP_024308452.1:p.Pro1798Thr | |
| NM_004369.4:c.6613C>A MANE Select | NP_004360.2:p.Pro2205Thr | |
| NM_057166.5:c.4792C>A | NP_476507.3:p.Pro1598Thr | |
| NM_057167.4:c.5995C>A | NP_476508.2:p.Pro1999Thr |