Linked Data
ClinVar Variation Id:
287642
dbSNP Id:
rs188085072
ExAC:
3:46747392 C / T
gnomAD v2:
3-46747392-C-T
gnomAD v3:
3-46705902-C-T
gnomAD v4:
3-46705902-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46705902C>T , CM000665.2:g.46705902C>T | GRCh38 |
| NC_000003.11:g.46747392C>T , CM000665.1:g.46747392C>T | GRCh37 |
| NC_000003.10:g.46722396C>T | NCBI36 |
| NG_011628.1:g.9570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.206C>T MANE Select | ENSP00000494576.2:p.Ser69Phe | |
| ENST00000644830.1:c.47C>T | ENSP00000495111.1:p.Ser16Phe | |
| ENST00000651652.1:c.104C>T | ENSP00000498953.1:p.Ser35Phe | |
| ENST00000326431.3:c.206C>T | ENSP00000324775.3:p.Ser69Phe | |
| NM_147196.2:c.206C>T | NP_671729.2:p.Ser69Phe | |
| XM_006713097.2:c.47C>T | XP_006713160.1:p.Ser16Phe | |
| XM_011533574.1:c.47C>T | XP_011531876.1:p.Ser16Phe | |
| XM_006713097.4:c.47C>T | XP_006713160.1:p.Ser16Phe | |
| XM_024453446.1:c.47C>T | XP_024309214.1:p.Ser16Phe | |
| NM_001370524.1:c.47C>T | NP_001357453.1:p.Ser16Phe | |
| NM_001370525.1:c.47C>T | NP_001357454.1:p.Ser16Phe | |
| NM_147196.3:c.206C>T MANE Select | NP_671729.2:p.Ser69Phe |