Linked Data
ClinVar Variation Id:
17864
dbSNP Id:
rs429358
ExAC:
19:45411941 T / C
gnomAD v2:
19-45411941-T-C
gnomAD v3:
19-44908684-T-C
gnomAD v4:
19-44908684-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908684T>C , CM000681.2:g.44908684T>C | GRCh38 |
| NC_000019.9:g.45411941T>C , CM000681.1:g.45411941T>C | GRCh37 |
| NC_000019.8:g.50103781T>C | NCBI36 |
| NG_007084.2:g.7903T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.388T>C MANE Select | ENSP00000252486.3:p.Cys130Arg | |
| ENST00000252486.8:c.388T>C | ENSP00000252486.3:p.Cys130Arg | |
| ENST00000425718.1:c.388T>C | ENSP00000410423.1:p.Cys130Arg | |
| ENST00000434152.5:c.466T>C | ENSP00000413653.2:p.Cys156Arg | |
| ENST00000446996.5:c.388T>C | ENSP00000413135.1:p.Cys130Arg | |
| NM_000041.3:c.388T>C | NP_000032.1:p.Cys130Arg | |
| NM_001302688.1:c.466T>C | NP_001289617.1:p.Cys156Arg | |
| NM_001302689.1:c.388T>C | NP_001289618.1:p.Cys130Arg | |
| NM_001302690.1:c.388T>C | NP_001289619.1:p.Cys130Arg | |
| NM_001302691.1:c.388T>C | NP_001289620.1:p.Cys130Arg | |
| NM_000041.4:c.388T>C MANE Select | NP_000032.1:p.Cys130Arg | |
| NM_001302688.2:c.466T>C | NP_001289617.1:p.Cys156Arg | |
| NM_001302689.2:c.388T>C | NP_001289618.1:p.Cys130Arg | |
| NM_001302691.2:c.388T>C | NP_001289620.1:p.Cys130Arg | |
| NM_001302690.2:c.388T>C | NP_001289619.1:p.Cys130Arg |