Linked Data
ClinVar Variation Id:
190430
ClinVar RCV Id:
RCV000170553
dbSNP Id:
rs786205688
gnomAD v4:
5-75598084-T-C
PubMed:
PMID:26046662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75598084T>C , CM000667.2:g.75598084T>C | GRCh38 |
| NC_000005.9:g.74893909T>C , CM000667.1:g.74893909T>C | GRCh37 |
| NC_000005.8:g.74929665T>C | NCBI36 |
| NG_051590.1:g.91335T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241436.9:c.*66T>C MANE Select | ENSP00000241436.4:n.*66T>C | |
| ENST00000241436.8:c.*66T>C | ENSP00000241436.4:n.*66T>C | |
| ENST00000506928.5:n.2802T>C | ||
| ENST00000510815.6:c.*1202T>C | ENSP00000422094.2:n.*1202T>C | |
| ENST00000514141.5:c.*1298T>C | ENSP00000423526.1:n.*1298T>C | |
| NM_016218.2:c.*66T>C | NP_057302.1:n.*66T>C | |
| XM_005248534.3:c.*66T>C | XP_005248591.1:n.*66T>C | |
| XM_006714652.2:c.*66T>C | XP_006714715.1:n.*66T>C | |
| XM_011543463.1:c.*66T>C | XP_011541765.1:n.*66T>C | |
| XM_011543464.1:c.*66T>C | XP_011541766.1:n.*66T>C | |
| XM_011543465.1:c.*66T>C | XP_011541767.1:n.*66T>C | |
| XM_011543466.1:c.*66T>C | XP_011541768.1:n.*66T>C | |
| XM_011543467.1:c.*66T>C | XP_011541769.1:n.*66T>C | |
| XR_948273.1:n.2871T>C | ||
| NM_001345921.1:c.*66T>C | NP_001332850.1:n.*66T>C | |
| NM_001345922.1:c.*66T>C | NP_001332851.1:n.*66T>C | |
| NM_016218.3:c.*66T>C | NP_057302.1:n.*66T>C | |
| NR_144315.1:n.2685T>C | ||
| XM_005248534.5:c.*66T>C | XP_005248591.1:n.*66T>C | |
| XM_006714652.4:c.*66T>C | XP_006714715.1:n.*66T>C | |
| XM_011543463.3:c.*66T>C | XP_011541765.1:n.*66T>C | |
| XM_011543464.3:c.*66T>C | XP_011541766.1:n.*66T>C | |
| XM_011543467.3:c.*66T>C | XP_011541769.1:n.*66T>C | |
| XM_017009559.2:c.*66T>C | XP_016865048.1:n.*66T>C | |
| XM_017009560.2:c.*66T>C | XP_016865049.1:n.*66T>C | |
| XM_017009561.2:c.*66T>C | XP_016865050.1:n.*66T>C | |
| XM_017009563.2:c.*66T>C | XP_016865052.1:n.*66T>C | |
| XR_001742105.2:n.3169T>C | ||
| XR_001742107.2:n.3253T>C | ||
| XR_001742108.2:n.2787T>C | ||
| XR_241784.3:n.3211T>C | ||
| XR_948273.3:n.2871T>C | ||
| NM_001345921.2:c.*66T>C | NP_001332850.1:n.*66T>C | |
| NM_001345922.2:c.*66T>C | NP_001332851.1:n.*66T>C | |
| NM_001387110.2:c.*66T>C | NP_001374039.1:n.*66T>C | |
| NM_001387111.2:c.*66T>C | NP_001374040.1:n.*66T>C | |
| NM_001387113.2:c.*66T>C | NP_001374042.1:n.*66T>C | |
| NM_016218.5:c.*66T>C | NP_057302.1:n.*66T>C | |
| NR_144315.2:n.2544T>C | ||
| NR_170559.2:n.2533T>C | ||
| NR_170560.2:n.2765T>C | ||
| NM_001345921.3:c.*66T>C | NP_001332850.1:n.*66T>C | |
| NM_001345922.3:c.*66T>C | NP_001332851.1:n.*66T>C | |
| NM_001387110.3:c.*66T>C | NP_001374039.1:n.*66T>C | |
| NM_001387111.3:c.*66T>C | NP_001374040.1:n.*66T>C | |
| NM_001387113.3:c.*66T>C | NP_001374042.1:n.*66T>C | |
| NM_001395893.1:c.*66T>C | NP_001382822.1:n.*66T>C | |
| NM_001395894.1:c.*66T>C | NP_001382823.1:n.*66T>C | |
| NM_001395897.1:c.*66T>C | NP_001382826.1:n.*66T>C | |
| NM_001395899.1:c.*66T>C | NP_001382828.1:n.*66T>C | |
| NM_001395900.1:c.*66T>C | NP_001382829.1:n.*66T>C | |
| NM_001395901.1:c.*66T>C | NP_001382830.1:n.*66T>C | |
| NM_001395902.1:c.*66T>C | NP_001382831.1:n.*66T>C | |
| NM_016218.6:c.*66T>C MANE Select | NP_057302.1:n.*66T>C | |
| NR_144315.3:n.2544T>C | ||
| NR_170559.3:n.2533T>C | ||
| NR_170560.3:n.2765T>C |