Linked Data
ClinVar Variation Id:
356356
ClinVar RCV Id:
RCV000294596
dbSNP Id:
rs2075702
ExAC:
6:31937511 T / C
gnomAD v2:
6-31937511-T-C
gnomAD v3:
6-31969734-T-C
gnomAD v4:
6-31969734-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969734T>C , CM000668.2:g.31969734T>C | GRCh38 |
| NC_000006.11:g.31937511T>C , CM000668.1:g.31937511T>C | GRCh37 |
| NC_000006.10:g.32045490T>C | NCBI36 |
| NG_032652.1:g.15931T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461073.6:c.*2808T>C | ENSP00000419905.1:n.*2808T>C | |
| ENST00000494058.6:n.4062T>C | ||
| ENST00000697831.1:c.*19T>C | ENSP00000513453.1:n.*19T>C | |
| ENST00000697832.1:n.3913T>C | ||
| ENST00000697835.1:c.*3278T>C | ENSP00000513455.1:n.*3278T>C | |
| ENST00000697837.1:c.*876T>C | ENSP00000513456.1:n.*876T>C | |
| ENST00000697838.1:c.*19T>C | ENSP00000513457.1:n.*19T>C | |
| ENST00000697840.1:c.*19T>C | ENSP00000513458.1:n.*19T>C | |
| ENST00000697842.1:n.4015T>C | ||
| ENST00000375394.7:c.*19T>C MANE Select | ENSP00000364543.2:n.*19T>C | |
| ENST00000375394.6:c.*19T>C | ENSP00000364543.2:n.*19T>C | |
| ENST00000465703.5:n.4490T>C | ||
| ENST00000471818.1:n.689T>C | ||
| ENST00000474839.5:c.*3132T>C | ENSP00000420470.1:n.*3132T>C | |
| ENST00000483553.5:c.1290T>C | ||
| ENST00000491994.1:c.849T>C | ||
| NM_006929.4:c.*19T>C | NP_008860.4:n.*19T>C | |
| XR_926301.3:n.3776T>C | ||
| NM_006929.5:c.*19T>C MANE Select | NP_008860.4:n.*19T>C |