Linked Data
ClinVar Variation Id:
1928736
ClinVar RCV Id:
RCV002614672
dbSNP Id:
rs1159855486
gnomAD v2:
X-53561126-G-A
gnomAD v3:
X-53534165-G-A
gnomAD v4:
X-53534165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53534165G>A , CM000685.2:g.53534165G>A | GRCh38 |
| NC_000023.10:g.53561126G>A , CM000685.1:g.53561126G>A | GRCh37 |
| NC_000023.9:g.53577851G>A | NCBI36 |
| NG_016261.2:g.157569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.12648C>T | ENSP00000515693.1:p.Phe4216= | |
| ENST00000262854.11:c.12864C>T MANE Select | ENSP00000262854.6:p.Phe4288= | |
| ENST00000262854.10:c.12864C>T | ENSP00000262854.6:p.Phe4288= | |
| ENST00000342160.7:c.12864C>T | ENSP00000340648.3:p.Phe4288= | |
| ENST00000426907.5:c.3331C>T | ||
| ENST00000488459.1:n.177C>T | ||
| ENST00000612484.4:c.12837C>T | ENSP00000479451.1:p.Phe4279= | |
| NM_031407.6:c.12864C>T | NP_113584.3:p.Phe4288= | |
| XM_005261965.2:c.12864C>T | XP_005262022.1:p.Phe4288= | |
| XM_011530746.1:c.13113C>T | XP_011529048.1:p.Phe4371= | |
| XM_011530747.1:c.13113C>T | XP_011529049.1:p.Phe4371= | |
| XM_011530748.1:c.13113C>T | XP_011529050.1:p.Phe4371= | |
| XM_011530749.1:c.13113C>T | XP_011529051.1:p.Phe4371= | |
| XM_011530750.1:c.13113C>T | XP_011529052.1:p.Phe4371= | |
| XM_011530751.1:c.13113C>T | XP_011529053.1:p.Phe4371= | |
| XM_011530752.1:c.13110C>T | XP_011529054.1:p.Phe4370= | |
| XM_011530753.1:c.13068C>T | XP_011529055.1:p.Phe4356= | |
| XM_011530754.1:c.13065C>T | XP_011529056.1:p.Phe4355= | |
| XM_011530755.1:c.13062C>T | XP_011529057.1:p.Phe4354= | |
| XM_011530756.1:c.13014C>T | XP_011529058.1:p.Phe4338= | |
| XM_011530757.1:c.12711C>T | XP_011529059.1:p.Phe4237= | |
| XM_005261965.4:c.12864C>T | XP_005262022.1:p.Phe4288= | |
| XM_011530751.2:c.13113C>T | XP_011529053.1:p.Phe4371= | |
| XM_017029191.1:c.13245C>T | XP_016884680.1:p.Phe4415= | |
| XM_017029192.1:c.13242C>T | XP_016884681.1:p.Phe4414= | |
| XM_017029193.1:c.13224C>T | XP_016884682.1:p.Phe4408= | |
| XM_017029194.1:c.13200C>T | XP_016884683.1:p.Phe4400= | |
| XM_017029195.1:c.13197C>T | XP_016884684.1:p.Phe4399= | |
| XM_017029196.1:c.13194C>T | XP_016884685.1:p.Phe4398= | |
| XM_017029197.1:c.13146C>T | XP_016884686.1:p.Phe4382= | |
| XM_017029198.2:c.13134C>T | XP_016884687.1:p.Phe4378= | |
| XM_017029199.1:c.13134C>T | XP_016884688.1:p.Phe4378= | |
| XM_017029200.1:c.13134C>T | XP_016884689.1:p.Phe4378= | |
| XM_017029201.1:c.13134C>T | XP_016884690.1:p.Phe4378= | |
| XM_017029202.1:c.13134C>T | XP_016884691.1:p.Phe4378= | |
| XM_017029203.1:c.13134C>T | XP_016884692.1:p.Phe4378= | |
| XM_017029204.1:c.12996C>T | XP_016884693.1:p.Phe4332= | |
| XM_017029206.1:c.12843C>T | XP_016884695.1:p.Phe4281= | |
| XM_024452322.1:c.13113C>T | XP_024308090.1:p.Phe4371= | |
| NM_031407.7:c.12864C>T MANE Select | NP_113584.3:p.Phe4288= |