Linked Data
ClinVar Variation Id:
1384634
ClinVar RCV Id:
RCV001897735
dbSNP Id:
rs150160103
ExAC:
12:102153899 A / G
gnomAD v2:
12-102153899-A-G
gnomAD v3:
12-101760121-A-G
gnomAD v4:
12-101760121-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760121A>G , CM000674.2:g.101760121A>G | GRCh38 |
| NC_000012.11:g.102153899A>G , CM000674.1:g.102153899A>G | GRCh37 |
| NC_000012.10:g.100678030A>G | NCBI36 |
| NG_021243.1:g.75747T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3158T>C MANE Select | ENSP00000299314.7:p.Met1053Thr | |
| ENST00000299314.11:c.3158T>C | ENSP00000299314.7:p.Met1053Thr | |
| ENST00000549194.1:n.24T>C | ||
| NM_024312.4:c.3158T>C | NP_077288.2:p.Met1053Thr | |
| XM_006719593.2:c.3158T>C | XP_006719656.1:p.Met1053Thr | |
| XM_011538731.1:c.3077T>C | XP_011537033.1:p.Met1026Thr | |
| XM_006719593.3:c.3158T>C | XP_006719656.1:p.Met1053Thr | |
| XM_011538731.2:c.3077T>C | XP_011537033.1:p.Met1026Thr | |
| XM_017019961.1:c.2942T>C | XP_016875450.1:p.Met981Thr | |
| XM_017019962.2:c.1931T>C | XP_016875451.1:p.Met644Thr | |
| NM_024312.5:c.3158T>C MANE Select | NP_077288.2:p.Met1053Thr |