Linked Data
ClinVar Variation Id:
402277
dbSNP Id:
rs1060499808
gnomAD v2:
7-107344789-T-C
gnomAD v4:
7-107704344-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107704344T>C , CM000669.2:g.107704344T>C | GRCh38 |
| NC_000007.13:g.107344789T>C , CM000669.1:g.107344789T>C | GRCh37 |
| NC_000007.12:g.107132025T>C | NCBI36 |
| NG_008489.1:g.48710T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.2048T>C MANE Select | ENSP00000494017.1:p.Phe683Ser | |
| ENST00000644846.1:c.745+2287T>C | ||
| ENST00000265715.7:c.2048T>C | ENSP00000265715.3:p.Phe683Ser | |
| ENST00000492030.2:n.335T>C | ||
| NM_000441.1:c.2048T>C | NP_000432.1:p.Phe683Ser | |
| XM_005250425.1:c.2048T>C | XP_005250482.1:p.Phe683Ser | |
| XM_005250425.2:c.2048T>C | XP_005250482.1:p.Phe683Ser | |
| XM_017012318.1:c.1970T>C | XP_016867807.1:p.Phe657Ser | |
| NM_000441.2:c.2048T>C MANE Select | NP_000432.1:p.Phe683Ser |