Linked Data
ClinVar Variation Id:
198757
dbSNP Id:
rs794727908
gnomAD v2:
1-155207235-A-G
gnomAD v4:
1-155237444-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155237444A>G , CM000663.2:g.155237444A>G | GRCh38 |
| NC_000001.10:g.155207235A>G , CM000663.1:g.155207235A>G | GRCh37 |
| NC_000001.9:g.153473859A>G | NCBI36 |
| NG_009783.1:g.12254T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.896T>C MANE Select | ENSP00000357357.3:p.Ile299Thr | |
| ENST00000327247.9:c.896T>C | ENSP00000314508.5:p.Ile299Thr | |
| ENST00000368373.7:c.896T>C | ENSP00000357357.3:p.Ile299Thr | |
| ENST00000427500.7:c.749T>C | ENSP00000402577.2:p.Ile250Thr | |
| ENST00000428024.3:c.635T>C | ENSP00000397986.2:p.Ile212Thr | |
| ENST00000484489.5:n.340-1156T>C | ||
| ENST00000491081.5:n.501T>C | ||
| ENST00000497670.5:n.519T>C | ||
| NM_000157.3:c.896T>C | NP_000148.2:p.Ile299Thr | |
| NM_001005741.2:c.896T>C | NP_001005741.1:p.Ile299Thr | |
| NM_001005742.2:c.896T>C | NP_001005742.1:p.Ile299Thr | |
| NM_001171811.1:c.635T>C | NP_001165282.1:p.Ile212Thr | |
| NM_001171812.1:c.749T>C | NP_001165283.1:p.Ile250Thr | |
| XM_006711270.1:c.896T>C | XP_006711333.1:p.Ile299Thr | |
| XM_011509407.1:c.896T>C | XP_011507709.1:p.Ile299Thr | |
| NM_000157.4:c.896T>C MANE Select | NP_000148.2:p.Ile299Thr | |
| NM_001005741.3:c.896T>C | NP_001005741.1:p.Ile299Thr | |
| NM_001005742.3:c.896T>C | NP_001005742.1:p.Ile299Thr | |
| NM_001171811.2:c.635T>C | NP_001165282.1:p.Ile212Thr | |
| NM_001171812.2:c.749T>C | NP_001165283.1:p.Ile250Thr |