Linked Data
ClinVar Variation Id:
5010
ClinVar RCV Id:
RCV000005313
dbSNP Id:
rs104894346
gnomAD v4:
12-49094511-A-G
PubMed:
PMID:11017805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49094511A>G , CM000674.2:g.49094511A>G | GRCh38 |
| NC_000012.11:g.49488294A>G , CM000674.1:g.49488294A>G | GRCh37 |
| NC_000012.10:g.47774561A>G | NCBI36 |
| NG_008973.1:g.5309T>C | |
| NG_008973.2:g.5309T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649637.2:c.2T>C MANE Select | ENSP00000497483.1:p.Met1Thr | |
| ENST00000266991.2:c.2T>C | ENSP00000266991.2:p.Met1Thr | |
| NM_021044.2:c.2T>C | NP_066382.1:p.Met1Thr | |
| XR_944932.1:n.2211+323A>G | ||
| XR_944933.1:n.1868+323A>G | ||
| XR_944934.1:n.995+323A>G | ||
| NM_021044.4:c.2T>C MANE Select | NP_066382.1:p.Met1Thr | |
| XR_001749126.1:n.1548+323A>G | ||
| XR_001749127.2:n.1364+323A>G | ||
| XR_001749128.1:n.332+323A>G |