Linked Data
dbSNP Id:
rs779300306
ExAC:
7:42005336 A / G
gnomAD v2:
7-42005336-A-G
gnomAD v4:
7-41965738-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41965738A>G , CM000669.2:g.41965738A>G | GRCh38 |
| NC_000007.13:g.42005336A>G , CM000669.1:g.42005336A>G | GRCh37 |
| NC_000007.12:g.41971861A>G | NCBI36 |
| NG_008434.1:g.276283T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.3335T>C MANE Select | ENSP00000379258.3:p.Phe1112Ser | |
| ENST00000677288.1:c.3161T>C | ENSP00000503986.1:p.Phe1054Ser | |
| ENST00000677605.1:c.3335T>C | ENSP00000503743.1:p.Phe1112Ser | |
| ENST00000678429.1:c.3335T>C | ENSP00000502957.1:p.Phe1112Ser | |
| ENST00000395925.7:c.3335T>C | ENSP00000379258.3:p.Phe1112Ser | |
| ENST00000479210.1:n.3312T>C | ||
| NM_000168.5:c.3335T>C | NP_000159.3:p.Phe1112Ser | |
| XM_005249703.1:c.3335T>C | XP_005249760.1:p.Phe1112Ser | |
| XM_005249704.2:c.3335T>C | XP_005249761.1:p.Phe1112Ser | |
| XM_011515272.1:c.3335T>C | XP_011513574.1:p.Phe1112Ser | |
| XM_011515273.1:c.3335T>C | XP_011513575.1:p.Phe1112Ser | |
| XM_011515274.1:c.3158T>C | XP_011513576.1:p.Phe1053Ser | |
| XM_011515274.2:c.3158T>C | XP_011513576.1:p.Phe1053Ser | |
| XM_017011997.1:c.3332T>C | XP_016867486.1:p.Phe1111Ser | |
| NM_000168.6:c.3335T>C MANE Select | NP_000159.3:p.Phe1112Ser |