Linked Data
ClinVar Variation Id:
382373
ClinVar RCV Id:
RCV000435830
dbSNP Id:
rs762250302
ExAC:
5:130506698 C / T
gnomAD v2:
5-130506698-C-T
gnomAD v3:
5-131171005-C-T
gnomAD v4:
5-131171005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131171005C>T , CM000667.2:g.131171005C>T | GRCh38 |
| NC_000005.9:g.130506698C>T , CM000667.1:g.130506698C>T | GRCh37 |
| NC_000005.8:g.130534597C>T | NCBI36 |
| NG_034163.1:g.5092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379380.9:c.-16C>T (LYRM7) MANE Select | ENSP00000368688.4:n.-16C>T | |
| ENST00000506207.2:n.236+601G>A (HINT1) | ||
| ENST00000379380.8:c.-16C>T (LYRM7) | ENSP00000368688.4:n.-16C>T | |
| ENST00000506207.1:n.130+601G>A (HINT1) | ||
| ENST00000507584.1:c.-16C>T (LYRM7) | ENSP00000423991.1:n.-16C>T | |
| ENST00000510516.5:c.-16C>T (LYRM7) | ENSP00000423283.1:n.-16C>T | |
| NM_001293735.1:c.-16C>T (LYRM7) | NP_001280664.1:n.-16C>T | |
| NM_181705.3:c.-16C>T (LYRM7) | NP_859056.2:n.-16C>T | |
| NR_121658.1:n.92C>T (LYRM7) | ||
| NM_181705.4:c.-16C>T (LYRM7) MANE Select | NP_859056.2:n.-16C>T | |
| NM_001293735.2:c.-16C>T (LYRM7) | NP_001280664.1:n.-16C>T | |
| NR_121658.2:n.62C>T (LYRM7) |