Linked Data
ClinVar Variation Id:
536969
ClinVar RCV Id:
RCV000645700
dbSNP Id:
rs1284942525
gnomAD v2:
2-128183673-G-T
gnomAD v4:
2-127426097-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426097G>T , CM000664.2:g.127426097G>T | GRCh38 |
| NC_000002.11:g.128183673G>T , CM000664.1:g.128183673G>T | GRCh37 |
| NC_000002.10:g.127900143G>T | NCBI36 |
| NG_016323.1:g.12678G>T , LRG_599:g.12678G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.548G>T MANE Select | ENSP00000234071.4:p.Cys183Phe | |
| ENST00000234071.7:c.548G>T | ENSP00000234071.3:p.Cys183Phe | |
| ENST00000402125.2:c.121-2260G>T | ||
| ENST00000409048.1:c.650G>T | ENSP00000386679.1:p.Cys217Phe | |
| ENST00000442644.5:c.491G>T | ENSP00000411241.1:p.Cys164Phe | |
| ENST00000464089.1:n.134G>T | ||
| NM_000312.3:c.548G>T , LRG_599t1:c.548G>T | NP_000303.1:p.Cys183Phe | |
| XM_005263715.3:c.731G>T | XP_005263772.1:p.Cys244Phe | |
| XM_005263716.3:c.713G>T | XP_005263773.1:p.Cys238Phe | |
| XM_005263717.3:c.611G>T | XP_005263774.1:p.Cys204Phe | |
| XM_005263717.4:c.611G>T | XP_005263774.1:p.Cys204Phe | |
| XM_017004505.1:c.791G>T | XP_016859994.1:p.Cys264Phe | |
| XM_024453002.1:c.893G>T | XP_024308770.1:p.Cys298Phe | |
| XM_024453003.1:c.833G>T | XP_024308771.1:p.Cys278Phe | |
| XM_024453004.1:c.731G>T | XP_024308772.1:p.Cys244Phe | |
| XM_024453005.1:c.713G>T | XP_024308773.1:p.Cys238Phe | |
| XM_024453006.1:c.650G>T | XP_024308774.1:p.Cys217Phe | |
| XR_923313.2:n.4488C>A | ||
| NM_000312.4:c.548G>T MANE Select | NP_000303.1:p.Cys183Phe | |
| NM_001375602.1:c.731G>T | NP_001362531.1:p.Cys244Phe | |
| NM_001375603.1:c.713G>T | NP_001362532.1:p.Cys238Phe | |
| NM_001375604.1:c.611G>T | NP_001362533.1:p.Cys204Phe | |
| NM_001375605.1:c.650G>T | NP_001362534.1:p.Cys217Phe | |
| NM_001375606.1:c.716G>T | NP_001362535.1:p.Cys239Phe | |
| NM_001375607.1:c.734G>T | NP_001362536.1:p.Cys245Phe | |
| NM_001375608.1:c.491G>T | NP_001362537.1:p.Cys164Phe | |
| NM_001375609.1:c.524G>T | NP_001362538.1:p.Cys175Phe | |
| NM_001375610.1:c.542G>T | NP_001362539.1:p.Cys181Phe | |
| NM_001375611.1:c.548G>T | NP_001362540.1:p.Cys183Phe | |
| NM_001375613.1:c.548G>T | NP_001362542.1:p.Cys183Phe |