Linked Data
ClinVar Variation Id:
224162
ClinVar RCV Id:
RCV000209925
dbSNP Id:
rs869312716
gnomAD v4:
2-11211744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11211744G>A , CM000664.2:g.11211744G>A | GRCh38 |
| NC_000002.11:g.11351870G>A , CM000664.1:g.11351870G>A | GRCh37 |
| NC_000002.10:g.11269321G>A | NCBI36 |
| NG_029769.1:g.137842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697752.1:c.2140C>T | ENSP00000513431.1:p.Arg714Ter | |
| ENST00000697790.1:c.451C>T | ENSP00000513442.1:p.Arg151Ter | |
| ENST00000697791.1:n.2500C>T | ||
| ENST00000697792.1:n.2500C>T | ||
| ENST00000315872.11:c.2140C>T MANE Select | ENSP00000317985.6:p.Arg714Ter | |
| ENST00000315872.10:c.2140C>T | ENSP00000317985.6:p.Arg714Ter | |
| ENST00000401753.5:c.1411C>T | ENSP00000385509.1:p.Arg471Ter | |
| ENST00000616279.4:c.85C>T | ENSP00000481789.1:p.Arg29Ter | |
| NM_004850.3:c.2140C>T | NP_004841.2:p.Arg714Ter | |
| XM_005246190.3:c.2140C>T | XP_005246247.1:p.Arg714Ter | |
| XM_011510417.1:c.1882C>T | XP_011508719.1:p.Arg628Ter | |
| NM_001321643.1:c.1882C>T | NP_001308572.1:p.Arg628Ter | |
| NM_004850.4:c.2140C>T | NP_004841.2:p.Arg714Ter | |
| XM_011510417.2:c.1882C>T | XP_011508719.1:p.Arg628Ter | |
| XM_017005378.2:c.2140C>T | XP_016860867.1:p.Arg714Ter | |
| XM_017005379.2:c.1882C>T | XP_016860868.1:p.Arg628Ter | |
| NM_004850.5:c.2140C>T MANE Select | NP_004841.2:p.Arg714Ter | |
| NM_001321643.2:c.1882C>T | NP_001308572.1:p.Arg628Ter |