Linked Data
ClinVar Variation Id:
347991
dbSNP Id:
rs200520976
ExAC:
4:16002206 C / A
gnomAD v2:
4-16002206-C-A
gnomAD v3:
4-16000583-C-A
gnomAD v4:
4-16000583-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.16000583C>A , CM000666.2:g.16000583C>A | GRCh38 |
| NC_000004.11:g.16002206C>A , CM000666.1:g.16002206C>A | GRCh37 |
| NC_000004.10:g.15611304C>A | NCBI36 |
| NG_011696.1:g.88418G>T | |
| NG_011696.2:g.88477G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447510.7:c.1491G>T MANE Select | ENSP00000415481.2:p.Leu497Phe | |
| ENST00000513946.2:c.*1174G>T | ENSP00000424738.2:n.*1174G>T | |
| ENST00000539194.6:c.1491G>T | ENSP00000443620.1:p.Leu497Phe | |
| ENST00000540805.6:c.1464G>T | ENSP00000438045.2:p.Leu488Phe | |
| ENST00000675377.1:c.1491G>T | ENSP00000502545.1:p.Leu497Phe | |
| ENST00000675613.1:c.1464G>T | ENSP00000501741.1:p.Leu488Phe | |
| ENST00000447510.6:c.1491G>T | ENSP00000415481.2:p.Leu497Phe | |
| ENST00000505450.5:c.1464G>T | ENSP00000426090.1:p.Leu488Phe | |
| ENST00000508167.5:c.1464G>T | ENSP00000427346.1:p.Leu488Phe | |
| ENST00000510224.5:c.1491G>T | ENSP00000426809.1:p.Leu497Phe | |
| ENST00000539194.5:c.1491G>T | ENSP00000443620.1:p.Leu497Phe | |
| ENST00000540805.5:c.1491G>T | ENSP00000438045.1:p.Leu497Phe | |
| NM_001145847.1:c.1464G>T | NP_001139319.1:p.Leu488Phe | |
| NM_001145848.1:c.1464G>T | NP_001139320.1:p.Leu488Phe | |
| NM_001145849.1:c.1491G>T | NP_001139321.1:p.Leu497Phe | |
| NM_001145850.1:c.1491G>T | NP_001139322.1:p.Leu497Phe | |
| NM_001145851.1:c.1464G>T | NP_001139323.1:p.Leu488Phe | |
| NM_001145852.1:c.1464G>T | NP_001139324.1:p.Leu488Phe | |
| NM_006017.2:c.1491G>T | NP_006008.1:p.Leu497Phe | |
| XM_005248195.3:c.1464G>T | XP_005248252.1:p.Leu488Phe | |
| XM_005248196.3:c.1464G>T | XP_005248253.1:p.Leu488Phe | |
| XM_006713974.2:c.1257G>T | XP_006714037.1:p.Leu419Phe | |
| XM_011513890.1:c.1491G>T | XP_011512192.1:p.Leu497Phe | |
| XM_011513891.1:c.1491G>T | XP_011512193.1:p.Leu497Phe | |
| XM_011513892.1:c.1491G>T | XP_011512194.1:p.Leu497Phe | |
| XM_011513893.1:c.1491G>T | XP_011512195.1:p.Leu497Phe | |
| XM_011513894.1:c.1491G>T | XP_011512196.1:p.Leu497Phe | |
| XM_011513895.1:c.1491G>T | XP_011512197.1:p.Leu497Phe | |
| XM_011513896.1:c.1491G>T | XP_011512198.1:p.Leu497Phe | |
| XM_011513897.1:c.1491G>T | XP_011512199.1:p.Leu497Phe | |
| XM_011513898.1:c.1491G>T | XP_011512200.1:p.Leu497Phe | |
| XM_011513899.1:c.1464G>T | XP_011512201.1:p.Leu488Phe | |
| XM_011513900.1:c.1491G>T | XP_011512202.1:p.Leu497Phe | |
| XM_011513901.1:c.1491G>T | XP_011512203.1:p.Leu497Phe | |
| XM_011513902.1:c.1491G>T | XP_011512204.1:p.Leu497Phe | |
| XM_011513903.1:c.1284G>T | XP_011512205.1:p.Leu428Phe | |
| XM_011513904.1:c.1218G>T | XP_011512206.1:p.Leu406Phe | |
| XM_005248195.5:c.1464G>T | XP_005248252.1:p.Leu488Phe | |
| XM_005248196.5:c.1464G>T | XP_005248253.1:p.Leu488Phe | |
| XM_006713974.3:c.1257G>T | XP_006714037.1:p.Leu419Phe | |
| XM_011513892.2:c.1491G>T | XP_011512194.1:p.Leu497Phe | |
| XM_011513893.2:c.1491G>T | XP_011512195.1:p.Leu497Phe | |
| XM_011513894.3:c.1491G>T | XP_011512196.1:p.Leu497Phe | |
| XM_011513895.2:c.1491G>T | XP_011512197.1:p.Leu497Phe | |
| XM_011513896.2:c.1491G>T | XP_011512198.1:p.Leu497Phe | |
| XM_011513897.3:c.1491G>T | XP_011512199.1:p.Leu497Phe | |
| XM_011513900.2:c.1491G>T | XP_011512202.1:p.Leu497Phe | |
| XM_011513902.2:c.1491G>T | XP_011512204.1:p.Leu497Phe | |
| XM_011513903.2:c.1284G>T | XP_011512205.1:p.Leu428Phe | |
| XM_017008799.1:c.1464G>T | XP_016864288.1:p.Leu488Phe | |
| XM_017008800.1:c.1491G>T | XP_016864289.1:p.Leu497Phe | |
| XM_017008802.1:c.1491G>T | XP_016864291.1:p.Leu497Phe | |
| XM_017008803.1:c.1464G>T | XP_016864292.1:p.Leu488Phe | |
| XM_017008804.1:c.1464G>T | XP_016864293.1:p.Leu488Phe | |
| XM_017008805.1:c.1464G>T | XP_016864294.1:p.Leu488Phe | |
| XM_024454276.1:c.1218G>T | XP_024310044.1:p.Leu406Phe | |
| NM_001145847.2:c.1464G>T | NP_001139319.1:p.Leu488Phe | |
| NM_001145848.2:c.1464G>T | NP_001139320.1:p.Leu488Phe | |
| NM_001145849.2:c.1491G>T | NP_001139321.1:p.Leu497Phe | |
| NM_001145850.2:c.1491G>T | NP_001139322.1:p.Leu497Phe | |
| NM_001145851.2:c.1464G>T | NP_001139323.1:p.Leu488Phe | |
| NM_001145852.2:c.1464G>T | NP_001139324.1:p.Leu488Phe | |
| NM_001371406.1:c.1464G>T | NP_001358335.1:p.Leu488Phe | |
| NM_001371407.1:c.1464G>T | NP_001358336.1:p.Leu488Phe | |
| NM_001371408.1:c.1464G>T | NP_001358337.1:p.Leu488Phe | |
| NM_006017.3:c.1491G>T MANE Select | NP_006008.1:p.Leu497Phe |