Linked Data
ClinVar Variation Id:
1441087
dbSNP Id:
rs765182735
ExAC:
21:44270220 G / A
gnomAD v2:
21-44270220-G-A
gnomAD v3:
21-42850110-G-A
gnomAD v4:
21-42850110-G-A
COSMIC:
COSM1232583
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42850110G>A , CM000683.2:g.42850110G>A | GRCh38 |
| NC_000021.8:g.44270220G>A , CM000683.1:g.44270220G>A | GRCh37 |
| NC_000021.7:g.43143289G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398208.3:c.1178C>T MANE Select | ENSP00000381266.2:p.Pro393Leu | |
| ENST00000330317.6:c.1178C>T | ENSP00000328671.2:p.Pro393Leu | |
| ENST00000398208.2:c.1178C>T | ENSP00000381266.2:p.Pro393Leu | |
| ENST00000476326.5:n.1093C>T | ||
| ENST00000492742.5:n.1321C>T | ||
| NM_001260474.1:c.1175C>T | NP_001247403.1:p.Pro392Leu | |
| NM_001260475.1:c.740C>T | NP_001247404.1:p.Pro247Leu | |
| NM_001260476.1:c.740C>T | NP_001247405.1:p.Pro247Leu | |
| NM_001260477.1:c.740C>T | NP_001247406.1:p.Pro247Leu | |
| NM_018669.5:c.1178C>T | NP_061139.2:p.Pro393Leu | |
| NM_033661.4:c.1178C>T | NP_387510.1:p.Pro393Leu | |
| NR_048535.1:n.1158C>T | ||
| XM_011529433.1:c.1166C>T | XP_011527735.1:p.Pro389Leu | |
| XR_937429.1:n.1252C>T | ||
| XR_937430.1:n.1252C>T | ||
| XR_937431.1:n.1252C>T | ||
| XM_017028262.1:c.1073C>T | XP_016883751.1:p.Pro358Leu | |
| XM_017028263.1:c.908C>T | XP_016883752.1:p.Pro303Leu | |
| XM_017028264.1:c.908C>T | XP_016883753.1:p.Pro303Leu | |
| XM_024452047.1:c.740C>T | XP_024307815.1:p.Pro247Leu | |
| XM_024452048.1:c.740C>T | XP_024307816.1:p.Pro247Leu | |
| XM_024452049.1:c.740C>T | XP_024307817.1:p.Pro247Leu | |
| XM_024452050.1:c.740C>T | XP_024307818.1:p.Pro247Leu | |
| NM_018669.6:c.1178C>T MANE Select | NP_061139.2:p.Pro393Leu | |
| NM_001260474.2:c.1175C>T | NP_001247403.1:p.Pro392Leu | |
| NM_001260475.2:c.740C>T | NP_001247404.1:p.Pro247Leu | |
| NM_001260476.2:c.740C>T | NP_001247405.1:p.Pro247Leu | |
| NM_001260477.2:c.740C>T | NP_001247406.1:p.Pro247Leu | |
| NM_033661.5:c.1178C>T | NP_387510.1:p.Pro393Leu |