Linked Data
ClinVar Variation Id:
47860
dbSNP Id:
rs17058153
ExAC:
9:75407159 T / C
gnomAD v2:
9-75407159-T-C
gnomAD v3:
9-72792243-T-C
gnomAD v4:
9-72792243-T-C
PubMed:
PMID:16134132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72792243T>C , CM000671.2:g.72792243T>C | GRCh38 |
| NC_000009.11:g.75407159T>C , CM000671.1:g.75407159T>C | GRCh37 |
| NC_000009.10:g.74596979T>C | NCBI36 |
| NG_008213.1:g.275443T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1457T>C MANE Select | ENSP00000297784.6:p.Met486Thr | |
| ENST00000644967.1:c.1019T>C | ENSP00000496159.1:p.Met340Thr | |
| ENST00000645053.1:c.1019T>C | ENSP00000493838.1:p.Met340Thr | |
| ENST00000645208.2:c.1457T>C | ENSP00000494684.1:p.Met486Thr | |
| ENST00000645773.1:c.1331T>C | ENSP00000493698.1:p.Met444Thr | |
| ENST00000645787.1:n.1497T>C | ||
| ENST00000646619.1:c.1019T>C | ENSP00000493726.1:p.Met340Thr | |
| ENST00000650689.1:n.1755T>C | ||
| ENST00000651183.1:c.1019T>C | ENSP00000498723.1:p.Met340Thr | |
| ENST00000297784.9:c.1457T>C | ENSP00000297784.5:p.Met486Thr | |
| ENST00000340019.4:c.1457T>C | ENSP00000341433.3:p.Met486Thr | |
| ENST00000486417.5:n.81T>C | ||
| NM_138691.2:c.1457T>C | NP_619636.2:p.Met486Thr | |
| XM_011518213.1:c.2045T>C | XP_011516515.1:p.Met682Thr | |
| XM_017014256.1:c.1460T>C | XP_016869745.1:p.Met487Thr | |
| NM_138691.3:c.1457T>C MANE Select | NP_619636.2:p.Met486Thr |