Linked Data
ClinVar Variation Id:
13761
ClinVar RCV Id:
RCV000014771
dbSNP Id:
rs104893938
gnomAD v4:
5-147831576-A-G
PubMed:
PMID:10835640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147831576A>G , CM000667.2:g.147831576A>G | GRCh38 |
| NC_000005.9:g.147211139A>G , CM000667.1:g.147211139A>G | GRCh37 |
| NC_000005.8:g.147191332A>G | NCBI36 |
| NG_008356.2:g.12656T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.2T>C MANE Select | ENSP00000296695.5:p.Met1Thr | |
| ENST00000296695.9:c.2T>C | ENSP00000296695.5:p.Met1Thr | |
| ENST00000510027.2:c.2T>C | ENSP00000427376.1:p.Met1Thr | |
| NM_003122.4:c.2T>C | NP_003113.2:p.Met1Thr | |
| NM_001354966.1:c.2T>C | NP_001341895.1:p.Met1Thr | |
| NM_001354966.2:c.2T>C | NP_001341895.1:p.Met1Thr | |
| NM_001379610.1:c.2T>C MANE Select | NP_001366539.1:p.Met1Thr | |
| NM_003122.5:c.2T>C | NP_003113.2:p.Met1Thr |