Linked Data
ClinVar Variation Id:
8303
dbSNP Id:
rs80338734
ExAC:
19:1401417 C / G
gnomAD v2:
19-1401417-C-G
gnomAD v3:
19-1401418-C-G
gnomAD v4:
19-1401418-C-G
ERepo:
CA340769/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401418C>G , CM000681.2:g.1401418C>G | GRCh38 |
| NC_000019.9:g.1401417C>G , CM000681.1:g.1401417C>G | GRCh37 |
| NC_000019.8:g.1352417C>G | NCBI36 |
| NG_009785.1:g.5136G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.59G>C MANE Select | ENSP00000252288.1:p.Trp20Ser | |
| ENST00000447102.8:c.59G>C | ENSP00000403536.2:p.Trp20Ser | |
| ENST00000640762.1:c.59G>C | ENSP00000492031.1:p.Trp20Ser | |
| ENST00000252288.6:c.59G>C | ENSP00000252288.1:p.Trp20Ser | |
| ENST00000447102.7:c.59G>C | ENSP00000403536.2:p.Trp20Ser | |
| NM_000156.5:c.59G>C | NP_000147.1:p.Trp20Ser | |
| NM_138924.2:c.59G>C | NP_620279.1:p.Trp20Ser | |
| NM_000156.6:c.59G>C MANE Select | NP_000147.1:p.Trp20Ser | |
| NM_138924.3:c.59G>C | NP_620279.1:p.Trp20Ser |