Linked Data
ClinVar Variation Id:
161474
ClinVar RCV Id:
RCV000149008
dbSNP Id:
rs193920850
COSMIC:
COSM1179720
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160062621T>C , CM000668.2:g.160062621T>C | GRCh38 |
| NC_000006.11:g.160483653T>C , CM000668.1:g.160483653T>C | GRCh37 |
| NC_000006.10:g.160403643T>C | NCBI36 |
| NG_011785.3:g.98523T>C | |
| NG_011785.4:g.98523T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356956.6:c.3670+2T>C MANE Select | ENSP00000349437.1:n.3670+2T>C | |
| ENST00000650503.1:n.280+2T>C | ||
| ENST00000676781.1:c.*1778+2T>C | ENSP00000504419.1:n.*1778+2T>C | |
| ENST00000677704.1:c.3670+2T>C | ENSP00000503314.1:n.3670+2T>C | |
| ENST00000356956.5:c.3670+2T>C | ENSP00000349437.1:n.3670+2T>C | |
| NM_000876.2:c.3670+2T>C | NP_000867.2:n.3670+2T>C | |
| XR_942419.1:n.3685+2T>C | ||
| NM_000876.3:c.3670+2T>C | NP_000867.2:n.3670+2T>C | |
| NM_000876.4:c.3670+2T>C MANE Select | NP_000867.3:n.3670+2T>C |