Linked Data
ClinVar Variation Id:
40549
dbSNP Id:
rs397507539
gnomAD v4:
12-112489047-C-A
PubMed:
PMID:22465605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489047C>A , CM000674.2:g.112489047C>A | GRCh38 |
| NC_000012.11:g.112926851C>A , CM000674.1:g.112926851C>A | GRCh37 |
| NC_000012.10:g.111411234C>A | NCBI36 |
| NG_007459.1:g.75316C>A , LRG_614:g.75316C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1471C>A | ENSP00000491593.2:p.Pro491Thr | |
| ENST00000685487.1:c.1471C>A | ENSP00000508503.1:p.Pro491Thr | |
| ENST00000687624.1:n.136C>A | ||
| ENST00000687906.1:c.1357C>A | ENSP00000509536.1:p.Pro453Thr | |
| ENST00000688597.1:c.1224+6842C>A | ENSP00000510628.1:n.1224+6842C>A | |
| ENST00000688701.1:n.715C>A | ||
| ENST00000690210.1:c.1471C>A | ENSP00000509272.1:p.Pro491Thr | |
| ENST00000690472.1:n.680C>A | ||
| ENST00000692624.1:c.*17C>A | ENSP00000508953.1:n.*17C>A | |
| ENST00000351677.7:c.1471C>A MANE Select | ENSP00000340944.3:p.Pro491Thr | |
| ENST00000351677.6:c.1471C>A | ENSP00000340944.2:p.Pro491Thr | |
| ENST00000635625.1:c.1483C>A | ENSP00000489597.1:p.Pro495Thr | |
| ENST00000635652.1:c.484C>A | ENSP00000489541.1:p.Pro162Thr | |
| NM_002834.3:c.1471C>A , LRG_614t1:c.1471C>A | NP_002825.3:p.Pro491Thr | |
| XM_006719526.1:c.1483C>A | XP_006719589.1:p.Pro495Thr | |
| XM_006719527.1:c.1369C>A | XP_006719590.1:p.Pro457Thr | |
| XM_011538613.1:c.1480C>A | XP_011536915.1:p.Pro494Thr | |
| NM_001330437.1:c.1483C>A | NP_001317366.1:p.Pro495Thr | |
| NM_002834.4:c.1471C>A | NP_002825.3:p.Pro491Thr | |
| XM_011538613.2:c.1480C>A | XP_011536915.1:p.Pro494Thr | |
| XM_017019722.1:c.1468C>A | XP_016875211.1:p.Pro490Thr | |
| NM_001330437.2:c.1483C>A | NP_001317366.1:p.Pro495Thr | |
| NM_001374625.1:c.1468C>A | NP_001361554.1:p.Pro490Thr | |
| NM_002834.5:c.1471C>A MANE Select | NP_002825.3:p.Pro491Thr |