Linked Data
ClinVar Variation Id:
8305
dbSNP Id:
rs104894694
gnomAD v4:
19-1401329-T-G
PubMed:
PMID:17101918
ERepo:
CA254380/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401329T>G , CM000681.2:g.1401329T>G | GRCh38 |
| NC_000019.9:g.1401328T>G , CM000681.1:g.1401328T>G | GRCh37 |
| NC_000019.8:g.1352328T>G | NCBI36 |
| NG_009785.1:g.5225A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.148A>C MANE Select | ENSP00000252288.1:p.Met50Leu | |
| ENST00000447102.8:c.148A>C | ENSP00000403536.2:p.Met50Leu | |
| ENST00000640762.1:c.112+36A>C | ENSP00000492031.1:n.112+36A>C | |
| ENST00000252288.6:c.148A>C | ENSP00000252288.1:p.Met50Leu | |
| ENST00000447102.7:c.148A>C | ENSP00000403536.2:p.Met50Leu | |
| NM_000156.5:c.148A>C | NP_000147.1:p.Met50Leu | |
| NM_138924.2:c.148A>C | NP_620279.1:p.Met50Leu | |
| NM_000156.6:c.148A>C MANE Select | NP_000147.1:p.Met50Leu | |
| NM_138924.3:c.148A>C | NP_620279.1:p.Met50Leu |