Linked Data
ClinVar Variation Id:
13478
ClinVar RCV Id:
RCV000014421
RCV000603252
RCV000119079
RCV003318541
RCV000471661
RCV004017244
RCV002482866
dbSNP Id:
rs74315446
gnomAD v3:
21-34449414-G-A
gnomAD v4:
21-34449414-G-A
MyVariant Identifiers:
chr21:g.34449414G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34449414G>A , CM000683.2:g.34449414G>A | GRCh38 |
| NG_009091.1:g.66902C>T , LRG_290:g.66902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399286.3:c.221C>T MANE Select | ENSP00000382226.2:p.Ser74Leu | |
| ENST00000337385.7:c.221C>T | ENSP00000337255.3:p.Ser74Leu | |
| ENST00000399284.1:c.221C>T | ENSP00000382225.1:p.Ser74Leu | |
| ENST00000399286.2:c.221C>T | ENSP00000382226.2:p.Ser74Leu | |
| ENST00000399289.7:c.221C>T | ENSP00000382228.3:p.Ser74Leu | |
| ENST00000416357.6:c.221C>T | ENSP00000416258.2:p.Ser74Leu | |
| ENST00000432085.5:c.221C>T | ENSP00000412498.1:p.Ser74Leu | |
| ENST00000611936.1:c.221C>T | ENSP00000478215.1:p.Ser74Leu | |
| ENST00000621601.4:c.221C>T | ENSP00000483895.1:p.Ser74Leu | |
| NM_000219.5:c.221C>T | NP_000210.2:p.Ser74Leu | |
| NM_001127668.3:c.221C>T | NP_001121140.1:p.Ser74Leu | |
| NM_001127669.3:c.221C>T | NP_001121141.1:p.Ser74Leu | |
| NM_001127670.3:c.221C>T | NP_001121142.1:p.Ser74Leu | |
| NM_001270402.2:c.221C>T | NP_001257331.1:p.Ser74Leu | |
| NM_001270403.2:c.221C>T | NP_001257332.1:p.Ser74Leu | |
| NM_001270404.2:c.221C>T | NP_001257333.1:p.Ser74Leu | |
| NM_001270405.2:c.221C>T | NP_001257334.1:p.Ser74Leu | |
| XM_011529555.1:c.13+5972C>T | XP_011527857.1:n.13+5972C>T | |
| XM_011529557.1:c.279+9240C>T | XP_011527859.1:n.279+9240C>T | |
| XM_017028342.1:c.284C>T | XP_016883831.1:p.Ser95Leu | |
| NM_000219.6:c.221C>T MANE Select | NP_000210.2:p.Ser74Leu | |
| NM_001127669.4:c.221C>T | NP_001121141.1:p.Ser74Leu | |
| NM_001127668.4:c.221C>T | NP_001121140.1:p.Ser74Leu | |
| NM_001127670.4:c.221C>T | NP_001121142.1:p.Ser74Leu | |
| NM_001270402.3:c.221C>T | NP_001257331.1:p.Ser74Leu | |
| NM_001270404.3:c.221C>T | NP_001257333.1:p.Ser74Leu | |
| NM_001270405.3:c.221C>T | NP_001257334.1:p.Ser74Leu |