Linked Data
ClinVar Variation Id:
793569
ClinVar RCV Id:
RCV000976754
dbSNP Id:
rs754694826
ExAC:
12:94243945 T / C
gnomAD v2:
12-94243945-T-C
gnomAD v3:
12-93850169-T-C
gnomAD v4:
12-93850169-T-C
COSMIC:
COSM383109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93850169T>C , CM000674.2:g.93850169T>C | GRCh38 |
| NC_000012.11:g.94243945T>C , CM000674.1:g.94243945T>C | GRCh37 |
| NC_000012.10:g.92768076T>C | NCBI36 |
| NG_032159.1:g.177795T>C | |
| NG_032159.2:g.177795T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332896.8:c.498T>C MANE Select | ENSP00000327647.3:p.Arg166= | |
| ENST00000332896.7:c.498T>C | ENSP00000327647.3:p.Arg166= | |
| ENST00000542893.2:c.498T>C | ENSP00000439068.2:p.Arg166= | |
| ENST00000548330.1:n.883T>C | ||
| ENST00000548483.5:c.299-43881T>C | ENSP00000448685.1:n.299-43881T>C | |
| ENST00000550030.1:n.298T>C | ||
| ENST00000551065.5:c.299-9150T>C | ENSP00000448425.1:n.299-9150T>C | |
| ENST00000609189.1:n.274T>C | ||
| NM_003805.3:c.498T>C | NP_003796.1:p.Arg166= | |
| XM_005269211.3:c.299-43881T>C | XP_005269268.1:n.299-43881T>C | |
| NM_001320099.1:c.498T>C | NP_001307028.1:p.Arg166= | |
| NM_001320100.1:c.299-43881T>C | NP_001307029.1:n.299-43881T>C | |
| NM_003805.4:c.498T>C | NP_003796.1:p.Arg166= | |
| NR_135147.1:n.407-9150T>C | ||
| XM_017020144.1:c.299-9150T>C | XP_016875633.1:n.299-9150T>C | |
| XR_001748910.1:n.430-9150T>C | ||
| NM_003805.5:c.498T>C MANE Select | NP_003796.1:p.Arg166= | |
| NM_001320099.2:c.498T>C | NP_001307028.1:p.Arg166= | |
| NM_001320100.2:c.299-43881T>C | NP_001307029.1:n.299-43881T>C | |
| NR_135147.2:n.403-9150T>C |