Linked Data
ClinVar Variation Id:
204065
dbSNP Id:
rs138584408
ExAC:
2:241808284 T / C
gnomAD v2:
2-241808284-T-C
gnomAD v3:
2-240868867-T-C
gnomAD v4:
2-240868867-T-C
PubMed:
PMID:15365967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868867T>C , CM000664.2:g.240868867T>C | GRCh38 |
| NC_000002.11:g.241808284T>C , CM000664.1:g.241808284T>C | GRCh37 |
| NC_000002.10:g.241456957T>C | NCBI36 |
| NG_008005.1:g.5123T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.2T>C MANE Select | ENSP00000302620.3:p.Met1Thr | |
| ENST00000307503.3:c.2T>C | ENSP00000302620.3:p.Met1Thr | |
| ENST00000472436.1:n.22T>C | ||
| NM_000030.2:c.2T>C | NP_000021.1:p.Met1Thr | |
| XR_924060.1:n.405+1366A>G | ||
| NM_000030.3:c.2T>C MANE Select | NP_000021.1:p.Met1Thr |