Linked Data
ClinVar Variation Id:
161764
ClinVar RCV Id:
RCV000149300
dbSNP Id:
rs193921121
COSMIC:
COSM5521457
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113564033C>A , CM000667.2:g.113564033C>A | GRCh38 |
| NC_000005.9:g.112899730C>A , CM000667.1:g.112899730C>A | GRCh37 |
| NC_000005.8:g.112927629C>A | NCBI36 |
| NG_051594.1:g.55351C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000161863.9:c.2617C>A MANE Select | ENSP00000161863.4:p.Pro873Thr | |
| ENST00000161863.8:c.2617C>A | ENSP00000161863.4:p.Pro873Thr | |
| NM_022828.3:c.2617C>A | NP_073739.3:p.Pro873Thr | |
| XM_011543581.1:c.2617C>A | XP_011541883.1:p.Pro873Thr | |
| XM_011543582.1:c.2617C>A | XP_011541884.1:p.Pro873Thr | |
| XM_011543583.1:c.2347C>A | XP_011541885.1:p.Pro783Thr | |
| XM_011543584.1:c.2347C>A | XP_011541886.1:p.Pro783Thr | |
| XM_011543585.1:c.2131C>A | XP_011541887.1:p.Pro711Thr | |
| XM_011543586.1:c.2617C>A | XP_011541888.1:p.Pro873Thr | |
| XM_011543587.1:c.1213C>A | XP_011541889.1:p.Pro405Thr | |
| XR_246540.2:n.2830C>A | ||
| XR_948288.1:n.2830C>A | ||
| NM_001345975.1:c.2131C>A | NP_001332904.1:p.Pro711Thr | |
| NM_001345976.1:c.1717C>A | NP_001332905.1:p.Pro573Thr | |
| NM_022828.4:c.2617C>A | NP_073739.3:p.Pro873Thr | |
| XM_011543582.2:c.2617C>A | XP_011541884.1:p.Pro873Thr | |
| XM_011543586.2:c.2617C>A | XP_011541888.1:p.Pro873Thr | |
| XM_017009731.1:c.2131C>A | XP_016865220.1:p.Pro711Thr | |
| XM_017009733.1:c.1717C>A | XP_016865222.1:p.Pro573Thr | |
| XM_017009735.1:c.1213C>A | XP_016865224.1:p.Pro405Thr | |
| XR_246540.3:n.2804C>A | ||
| XR_948288.2:n.2804C>A | ||
| NM_022828.5:c.2617C>A MANE Select | NP_073739.3:p.Pro873Thr | |
| NM_001345975.2:c.2131C>A | NP_001332904.1:p.Pro711Thr | |
| NM_001345976.2:c.1717C>A | NP_001332905.1:p.Pro573Thr |