Linked Data
ClinVar Variation Id:
1539370
ClinVar RCV Id:
RCV002162466
dbSNP Id:
rs2146025049
gnomAD v4:
19-7529169-G-C
MyVariant Identifiers:
chr19:g.7594055G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529169G>C , CM000681.2:g.7529169G>C | GRCh38 |
| NC_000019.9:g.7594055G>C , CM000681.1:g.7594055G>C | GRCh37 |
| NC_000019.8:g.7500055G>C | NCBI36 |
| NG_013374.1:g.18G>C | |
| NG_015806.1:g.11560G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1203G>C MANE Select | ENSP00000264079.5:p.Val401= | |
| ENST00000264079.10:c.1203G>C | ENSP00000264079.5:p.Val401= | |
| ENST00000394321.9:n.1518G>C | ||
| ENST00000594692.1:n.199G>C | ||
| ENST00000595860.5:n.386G>C | ||
| ENST00000599334.1:c.80G>C | ||
| NM_020533.2:c.1203G>C | NP_065394.1:p.Val401= | |
| NM_020533.3:c.1203G>C MANE Select | NP_065394.1:p.Val401= |