Linked Data
ClinVar Variation Id:
1000201
ClinVar RCV Id:
RCV001296298
dbSNP Id:
rs1160532583
gnomAD v2:
2-32476176-A-G
gnomAD v3:
2-32251107-A-G
gnomAD v4:
2-32251107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32251107A>G , CM000664.2:g.32251107A>G | GRCh38 |
| NC_000002.11:g.32476176A>G , CM000664.1:g.32476176A>G | GRCh37 |
| NC_000002.10:g.32329680A>G | NCBI36 |
| NG_041780.1:g.19637T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.-76+5668T>C | ENSP00000498301.2:n.-76+5668T>C | |
| ENST00000402280.6:c.757T>C MANE Select | ENSP00000385428.1:p.Phe253Leu | |
| ENST00000404025.3:c.757T>C | ENSP00000385090.3:p.Phe253Leu | |
| ENST00000652197.1:c.757T>C | ENSP00000498301.1:p.Phe253Leu | |
| ENST00000342905.10:c.262+1312T>C | ENSP00000339666.6:n.262+1312T>C | |
| ENST00000360906.9:c.757T>C | ENSP00000354159.5:p.Phe253Leu | |
| ENST00000402280.5:c.757T>C | ENSP00000385428.1:p.Phe253Leu | |
| ENST00000404025.2:c.757T>C | ENSP00000385090.2:p.Phe253Leu | |
| NM_001199138.1:c.757T>C | NP_001186067.1:p.Phe253Leu | |
| NM_001199139.1:c.757T>C | NP_001186068.1:p.Phe253Leu | |
| NM_001302504.1:c.262+1312T>C | NP_001289433.1:n.262+1312T>C | |
| NM_021209.4:c.757T>C | NP_067032.3:p.Phe253Leu | |
| XM_011533008.1:c.757T>C | XP_011531310.1:p.Phe253Leu | |
| XM_017004619.1:c.757T>C | XP_016860108.1:p.Phe253Leu | |
| XR_001738872.1:n.1018T>C | ||
| NM_001199138.2:c.757T>C MANE Select | NP_001186067.1:p.Phe253Leu |