Linked Data
ClinVar Variation Id:
6752
ClinVar RCV Id:
RCV000007144
dbSNP Id:
rs267606926
gnomAD v4:
5-69509746-T-C
PubMed:
PMID:20727516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69509746T>C , CM000667.2:g.69509746T>C | GRCh38 |
| NC_000005.9:g.68805573T>C , CM000667.1:g.68805573T>C | GRCh37 |
| NC_000005.8:g.68841329T>C | NCBI36 |
| NG_028291.1:g.22455T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396442.7:c.656T>C MANE Select | ENSP00000379719.2:p.Phe219Ser | |
| ENST00000680027.1:c.656T>C | ENSP00000506162.1:p.Phe219Ser | |
| ENST00000680098.1:c.656T>C | ENSP00000506561.1:p.Phe219Ser | |
| ENST00000680496.1:c.656T>C | ENSP00000504966.1:p.Phe219Ser | |
| ENST00000680784.1:c.656T>C | ENSP00000506305.1:p.Phe219Ser | |
| ENST00000681041.1:c.656T>C | ENSP00000505426.1:p.Phe219Ser | |
| ENST00000681586.1:c.656T>C | ENSP00000505541.1:p.Phe219Ser | |
| ENST00000681588.1:c.298+358T>C | ENSP00000506017.1:n.298+358T>C | |
| ENST00000681895.1:c.656T>C | ENSP00000505831.1:p.Phe219Ser | |
| ENST00000355237.6:c.656T>C | ENSP00000347379.2:p.Phe219Ser | |
| ENST00000396442.6:c.656T>C | ENSP00000379719.2:p.Phe219Ser | |
| ENST00000538151.2:c.-24-4202T>C | ENSP00000445940.1:n.-24-4202T>C | |
| NM_001205254.1:c.656T>C | NP_001192183.1:p.Phe219Ser | |
| NM_001205255.1:c.-24-4202T>C | NP_001192184.1:n.-24-4202T>C | |
| NM_002538.3:c.656T>C | NP_002529.1:p.Phe219Ser | |
| XM_017008913.2:c.656T>C | XP_016864402.1:p.Phe219Ser | |
| XM_017008914.2:c.656T>C | XP_016864403.1:p.Phe219Ser | |
| NM_001205254.2:c.656T>C MANE Select | NP_001192183.1:p.Phe219Ser | |
| NM_002538.4:c.656T>C | NP_002529.1:p.Phe219Ser |