Linked Data
ClinVar Variation Id:
13334
ClinVar RCV Id:
RCV000014262
RCV000033475
RCV000156985
RCV000212891
RCV000515312
RCV001813199
RCV002415414
RCV003147287
RCV003147288
dbSNP Id:
rs121918462
COSMIC:
COSM13019
PubMed:
PMID:11992261
PMID:12161469
PMID:12717436
PMID:14644997
PMID:15009076
PMID:15240615
PMID:15385933
PMID:15723289
PMID:15842656
PMID:15928039
PMID:15987685
PMID:16115145
PMID:16358218
PMID:17020470
PMID:17910045
PMID:17972951
PMID:18331608
PMID:20237506
PMID:20383758
PMID:24718990
PMID:25097206
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112450398C>T , CM000674.2:g.112450398C>T | GRCh38 |
| NC_000012.11:g.112888202C>T , CM000674.1:g.112888202C>T | GRCh37 |
| NC_000012.10:g.111372585C>T | NCBI36 |
| NG_007459.1:g.36667C>T , LRG_614:g.36667C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639857.2:c.218C>T | ENSP00000491593.2:p.Thr73Ile | |
| ENST00000685487.1:c.218C>T | ENSP00000508503.1:p.Thr73Ile | |
| ENST00000687906.1:c.218C>T | ENSP00000509536.1:p.Thr73Ile | |
| ENST00000688597.1:c.218C>T | ENSP00000510628.1:p.Thr73Ile | |
| ENST00000690210.1:c.218C>T | ENSP00000509272.1:p.Thr73Ile | |
| ENST00000692624.1:c.218C>T | ENSP00000508953.1:p.Thr73Ile | |
| ENST00000351677.7:c.218C>T MANE Select | ENSP00000340944.3:p.Thr73Ile | |
| ENST00000639857.1:c.218C>T | ENSP00000491593.1:p.Thr73Ile | |
| ENST00000351677.6:c.218C>T | ENSP00000340944.2:p.Thr73Ile | |
| ENST00000392597.5:c.218C>T | ENSP00000376376.1:p.Thr73Ile | |
| ENST00000635625.1:c.218C>T | ENSP00000489597.1:p.Thr73Ile | |
| NM_002834.3:c.218C>T , LRG_614t1:c.218C>T | NP_002825.3:p.Thr73Ile | |
| NM_080601.1:c.218C>T | NP_542168.1:p.Thr73Ile | |
| XM_006719526.1:c.218C>T | XP_006719589.1:p.Thr73Ile | |
| XM_006719527.1:c.218C>T | XP_006719590.1:p.Thr73Ile | |
| XM_011538613.1:c.215C>T | XP_011536915.1:p.Thr72Ile | |
| NM_001330437.1:c.218C>T | NP_001317366.1:p.Thr73Ile | |
| NM_002834.4:c.218C>T | NP_002825.3:p.Thr73Ile | |
| NM_080601.2:c.218C>T | NP_542168.1:p.Thr73Ile | |
| XM_011538613.2:c.215C>T | XP_011536915.1:p.Thr72Ile | |
| XM_017019722.1:c.215C>T | XP_016875211.1:p.Thr72Ile | |
| NM_001330437.2:c.218C>T | NP_001317366.1:p.Thr73Ile | |
| NM_001374625.1:c.215C>T | NP_001361554.1:p.Thr72Ile | |
| NM_002834.5:c.218C>T MANE Select | NP_002825.3:p.Thr73Ile | |
| NM_080601.3:c.218C>T | NP_542168.1:p.Thr73Ile |