Linked Data
ClinVar Variation Id:
218233
ClinVar RCV Id:
RCV000170549
dbSNP Id:
rs1554059573
PubMed:
PMID:26046662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75573841T>C , CM000667.2:g.75573841T>C | GRCh38 |
| NC_000005.9:g.74869666T>C , CM000667.1:g.74869666T>C | GRCh37 |
| NC_000005.8:g.74905422T>C | NCBI36 |
| NG_051590.1:g.67092T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241436.9:c.512T>C MANE Select | ENSP00000241436.4:p.Phe171Ser | |
| ENST00000241436.8:c.512T>C | ENSP00000241436.4:p.Phe171Ser | |
| ENST00000503479.6:c.314T>C | ENSP00000421997.2:p.Phe105Ser | |
| ENST00000504026.5:c.512T>C | ENSP00000425075.1:p.Phe171Ser | |
| ENST00000505975.5:c.626T>C | ENSP00000424859.1:n.626T>C | |
| ENST00000506928.5:n.549T>C | ||
| ENST00000507073.1:n.463T>C | ||
| ENST00000508526.5:c.512T>C | ENSP00000426853.1:p.Phe171Ser | |
| ENST00000508867.5:n.525T>C | ||
| ENST00000509126.2:c.512T>C | ENSP00000423532.1:p.Phe171Ser | |
| ENST00000510815.6:c.242T>C | ENSP00000422094.2:p.Phe81Ser | |
| ENST00000511527.5:c.626T>C | ENSP00000420997.1:n.626T>C | |
| ENST00000514141.5:c.512T>C | ENSP00000423526.1:p.Phe171Ser | |
| ENST00000515295.5:c.512T>C | ENSP00000424174.1:p.Phe171Ser | |
| NM_016218.2:c.512T>C | NP_057302.1:p.Phe171Ser | |
| XM_005248534.3:c.512T>C | XP_005248591.1:p.Phe171Ser | |
| XM_005248536.2:c.512T>C | XP_005248593.1:p.Phe171Ser | |
| XM_011543463.1:c.512T>C | XP_011541765.1:p.Phe171Ser | |
| XM_011543464.1:c.512T>C | XP_011541766.1:p.Phe171Ser | |
| XM_011543465.1:c.512T>C | XP_011541767.1:p.Phe171Ser | |
| XM_011543466.1:c.512T>C | XP_011541768.1:p.Phe171Ser | |
| XM_011543467.1:c.242T>C | XP_011541769.1:p.Phe81Ser | |
| XM_011543468.1:c.512T>C | XP_011541770.1:p.Phe171Ser | |
| XR_241783.2:n.608T>C | ||
| XR_241784.1:n.608T>C | ||
| XR_948273.1:n.792T>C | ||
| NM_001345921.1:c.314T>C | NP_001332850.1:p.Phe105Ser | |
| NM_001345922.1:c.242T>C | NP_001332851.1:p.Phe81Ser | |
| NM_016218.3:c.512T>C | NP_057302.1:p.Phe171Ser | |
| NR_144315.1:n.690T>C | ||
| XM_005248534.5:c.512T>C | XP_005248591.1:p.Phe171Ser | |
| XM_011543463.3:c.512T>C | XP_011541765.1:p.Phe171Ser | |
| XM_011543464.3:c.512T>C | XP_011541766.1:p.Phe171Ser | |
| XM_011543467.3:c.242T>C | XP_011541769.1:p.Phe81Ser | |
| XM_017009559.2:c.512T>C | XP_016865048.1:p.Phe171Ser | |
| XM_017009560.2:c.512T>C | XP_016865049.1:p.Phe171Ser | |
| XM_017009561.2:c.314T>C | XP_016865050.1:p.Phe105Ser | |
| XM_017009563.2:c.242T>C | XP_016865052.1:p.Phe81Ser | |
| XR_001742105.2:n.1132T>C | ||
| XR_001742107.2:n.1132T>C | ||
| XR_001742108.2:n.792T>C | ||
| XR_002956163.1:n.1132T>C | ||
| XR_241784.3:n.1132T>C | ||
| XR_948273.3:n.792T>C | ||
| NM_001345921.2:c.314T>C | NP_001332850.1:p.Phe105Ser | |
| NM_001345922.2:c.242T>C | NP_001332851.1:p.Phe81Ser | |
| NM_001387110.2:c.512T>C | NP_001374039.1:p.Phe171Ser | |
| NM_001387111.2:c.512T>C | NP_001374040.1:p.Phe171Ser | |
| NM_001387113.2:c.512T>C | NP_001374042.1:p.Phe171Ser | |
| NM_016218.5:c.512T>C | NP_057302.1:p.Phe171Ser | |
| NR_144315.2:n.549T>C | ||
| NR_170559.2:n.538T>C | ||
| NR_170560.2:n.686T>C | ||
| NM_001345921.3:c.314T>C | NP_001332850.1:p.Phe105Ser | |
| NM_001345922.3:c.242T>C | NP_001332851.1:p.Phe81Ser | |
| NM_001387110.3:c.512T>C | NP_001374039.1:p.Phe171Ser | |
| NM_001387111.3:c.512T>C | NP_001374040.1:p.Phe171Ser | |
| NM_001387113.3:c.512T>C | NP_001374042.1:p.Phe171Ser | |
| NM_001395893.1:c.242T>C | NP_001382822.1:p.Phe81Ser | |
| NM_001395894.1:c.512T>C | NP_001382823.1:p.Phe171Ser | |
| NM_001395897.1:c.551T>C | NP_001382826.1:p.Phe184Ser | |
| NM_001395899.1:c.359T>C | NP_001382828.1:p.Phe120Ser | |
| NM_001395900.1:c.314T>C | NP_001382829.1:p.Phe105Ser | |
| NM_001395901.1:c.512T>C | NP_001382830.1:p.Phe171Ser | |
| NM_001395902.1:c.242T>C | NP_001382831.1:p.Phe81Ser | |
| NM_016218.6:c.512T>C MANE Select | NP_057302.1:p.Phe171Ser | |
| NR_144315.3:n.549T>C | ||
| NR_170559.3:n.538T>C | ||
| NR_170560.3:n.686T>C |