Linked Data
ClinVar Variation Id:
456117
ClinVar RCV Id:
RCV000538241
dbSNP Id:
rs1351484293
gnomAD v4:
16-89744962-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89744962C>A , CM000678.2:g.89744962C>A | GRCh38 |
| NC_000016.9:g.89811370C>A , CM000678.1:g.89811370C>A | GRCh37 |
| NC_000016.8:g.88338871C>A | NCBI36 |
| NG_011706.1:g.76696G>T , LRG_495:g.76696G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2101G>T | ENSP00000512522.1:n.*2101G>T | |
| ENST00000564475.6:c.3623G>T | ENSP00000454977.2:p.Ser1208Ile | |
| ENST00000567510.2:c.2193G>T | ENSP00000455969.1:n.2193G>T | |
| ENST00000568369.6:c.3623G>T | ENSP00000456829.1:p.Ser1208Ile | |
| ENST00000568983.6:n.642G>T | ||
| ENST00000696274.1:n.3584G>T | ||
| ENST00000696275.1:c.*2858G>T | ENSP00000512517.1:n.*2858G>T | |
| ENST00000696286.1:c.3623G>T | ENSP00000512523.1:p.Ser1208Ile | |
| ENST00000696287.1:c.3494G>T | ENSP00000512524.1:p.Ser1165Ile | |
| ENST00000696291.1:c.*3055G>T | ENSP00000512530.1:n.*3055G>T | |
| ENST00000389301.8:c.3623G>T MANE Select | ENSP00000373952.3:p.Ser1208Ile | |
| ENST00000305699.15:n.866G>T | ||
| ENST00000389301.7:c.3623G>T | ENSP00000373952.3:p.Ser1208Ile | |
| ENST00000564969.5:n.47G>T | ||
| ENST00000567879.5:c.101G>T | ENSP00000457006.1:p.Ser34Ile | |
| ENST00000567988.5:c.875G>T | ||
| ENST00000568369.5:c.3623G>T | ENSP00000456829.1:p.Ser1208Ile | |
| ENST00000568626.1:c.471G>T | ||
| ENST00000568983.5:n.451G>T | ||
| NM_000135.2:c.3623G>T , LRG_495t1:c.3623G>T | NP_000126.2:p.Ser1208Ile | |
| NM_001286167.1:c.3623G>T | NP_001273096.1:p.Ser1208Ile | |
| XM_005256294.3:c.3623G>T | XP_005256351.1:p.Ser1208Ile | |
| XM_011522945.1:c.3494G>T | XP_011521247.1:p.Ser1165Ile | |
| XM_011522946.1:c.2600G>T | XP_011521248.1:p.Ser867Ile | |
| XM_011522947.1:c.2600G>T | XP_011521249.1:p.Ser867Ile | |
| XR_933244.1:n.3666G>T | ||
| XR_933245.1:n.3666G>T | ||
| XR_933246.1:n.3493G>T | ||
| NM_000135.3:c.3623G>T | NP_000126.2:p.Ser1208Ile | |
| NM_001286167.2:c.3623G>T | NP_001273096.1:p.Ser1208Ile | |
| XM_005256294.4:c.3623G>T | XP_005256351.1:p.Ser1208Ile | |
| XM_011522945.2:c.3494G>T | XP_011521247.1:p.Ser1165Ile | |
| XM_011522946.3:c.2600G>T | XP_011521248.1:p.Ser867Ile | |
| XM_011522947.2:c.2600G>T | XP_011521249.1:p.Ser867Ile | |
| XM_017023044.2:c.3494G>T | XP_016878533.1:p.Ser1165Ile | |
| XM_024450189.1:c.2600G>T | XP_024305957.1:p.Ser867Ile | |
| XR_001751866.1:n.3493G>T | ||
| XR_933244.2:n.3666G>T | ||
| XR_933245.2:n.3666G>T | ||
| NM_000135.4:c.3623G>T MANE Select | NP_000126.2:p.Ser1208Ile | |
| NM_001286167.3:c.3623G>T | NP_001273096.1:p.Ser1208Ile |