Linked Data
ClinVar Variation Id:
1271157
ClinVar RCV Id:
RCV001680678
dbSNP Id:
rs2236303
gnomAD v2:
14-23312718-C-T
gnomAD v3:
14-22843509-C-T
gnomAD v4:
14-22843509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843509C>T , CM000676.2:g.22843509C>T | GRCh38 |
| NC_000014.8:g.23312718C>T , CM000676.1:g.23312718C>T | GRCh37 |
| NC_000014.7:g.22382558C>T | NCBI36 |
| NG_046989.1:g.11977C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311852.11:c.850+91C>T MANE Select | ENSP00000308208.6:n.850+91C>T | |
| ENST00000548162.2:c.850+91C>T | ENSP00000506068.1:n.850+91C>T | |
| ENST00000680097.1:c.*165+91C>T | ENSP00000506631.1:n.*165+91C>T | |
| ENST00000680941.1:c.*248+91C>T | ENSP00000506378.1:n.*248+91C>T | |
| ENST00000311852.10:c.850+91C>T | ENSP00000308208.6:n.850+91C>T | |
| ENST00000548162.1:n.1092+91C>T | ||
| NM_004995.3:c.850+91C>T | NP_004986.1:n.850+91C>T | |
| NM_004995.4:c.850+91C>T MANE Select | NP_004986.1:n.850+91C>T |