Linked Data
dbSNP Id:
rs772703343
ExAC:
11:121475927 G / T
gnomAD v2:
11-121475927-G-T
gnomAD v4:
11-121605218-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121605218G>T , CM000673.2:g.121605218G>T | GRCh38 |
| NC_000011.9:g.121475927G>T , CM000673.1:g.121475927G>T | GRCh37 |
| NC_000011.8:g.120981137G>T | NCBI36 |
| NG_023313.1:g.157967G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.4757G>T MANE Select | ENSP00000260197.6:p.Cys1586Phe | |
| ENST00000260197.11:c.4757G>T | ENSP00000260197.6:p.Cys1586Phe | |
| ENST00000525532.5:c.1589G>T | ENSP00000434634.1:p.Cys530Phe | |
| ENST00000527934.1:c.602G>T | ENSP00000435405.1:p.Cys201Phe | |
| ENST00000532694.5:c.1295G>T | ENSP00000432131.1:p.Cys432Phe | |
| ENST00000534286.5:c.1487G>T | ENSP00000436447.1:p.Cys496Phe | |
| NM_003105.5:c.4757G>T | NP_003096.1:p.Cys1586Phe | |
| XM_011542963.1:c.4643G>T | XP_011541265.1:p.Cys1548Phe | |
| XM_011542964.1:c.4757G>T | XP_011541266.1:p.Cys1586Phe | |
| XM_011542965.1:c.3218G>T | XP_011541267.1:p.Cys1073Phe | |
| XM_011542966.1:c.2117G>T | XP_011541268.1:p.Cys706Phe | |
| XM_011542967.1:c.1589G>T | XP_011541269.1:p.Cys530Phe | |
| XM_011542963.3:c.4643G>T | XP_011541265.1:p.Cys1548Phe | |
| XM_011542965.3:c.3218G>T | XP_011541267.1:p.Cys1073Phe | |
| XM_011542967.3:c.1589G>T | XP_011541269.1:p.Cys530Phe | |
| XM_017018169.2:c.4445G>T | XP_016873658.1:p.Cys1482Phe | |
| XM_017018170.2:c.4232G>T | XP_016873659.1:p.Cys1411Phe | |
| XM_017018171.1:c.4757G>T | XP_016873660.1:p.Cys1586Phe | |
| XM_017018172.2:c.2117G>T | XP_016873661.1:p.Cys706Phe | |
| NM_003105.6:c.4757G>T MANE Select | NP_003096.2:p.Cys1586Phe |