Linked Data
ClinVar Variation Id:
348017
ClinVar RCV Id:
RCV000303785
dbSNP Id:
rs540595354
gnomAD v2:
4-169418249-G-C
gnomAD v3:
4-168497098-G-C
gnomAD v4:
4-168497098-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168497098G>C , CM000666.2:g.168497098G>C | GRCh38 |
| NC_000004.11:g.169418249G>C , CM000666.1:g.169418249G>C | GRCh37 |
| NC_000004.10:g.169654824G>C | NCBI36 |
| NG_013376.1:g.5033G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505667.6:c.-179G>C (PALLD) MANE Select | ENSP00000425556.1:n.-179G>C | |
| ENST00000261509.10:c.-179G>C (PALLD) | ENSP00000261509.6:n.-179G>C | |
| ENST00000505150.5:n.289-4213C>G (DDX60L) | ||
| ENST00000512958.1:n.238-4213C>G (DDX60L) | ||
| NM_001166108.1:c.-179G>C (PALLD) | NP_001159580.1:n.-179G>C | |
| NM_016081.3:c.-179G>C (PALLD) | NP_057165.3:n.-179G>C | |
| XM_005262861.3:c.-179G>C (PALLD) | XP_005262918.1:n.-179G>C | |
| XM_005262861.4:c.-179G>C (PALLD) | XP_005262918.1:n.-179G>C | |
| XR_001741448.2:n.1833-4213C>G | ||
| NM_001166108.2:c.-179G>C (PALLD) MANE Select | NP_001159580.1:n.-179G>C | |
| NM_016081.4:c.-179G>C (PALLD) | NP_057165.3:n.-179G>C |