Linked Data
ClinVar Variation Id:
2960985
ClinVar RCV Id:
RCV003819696
dbSNP Id:
rs1299120024
gnomAD v3:
14-75003271-G-C
gnomAD v4:
14-75003271-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003271G>C , CM000676.2:g.75003271G>C | GRCh38 |
| NC_000014.8:g.75469974G>C , CM000676.1:g.75469974G>C | GRCh37 |
| NC_000014.7:g.74539727G>C | NCBI36 |
| NG_013333.1:g.5363G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.164-4G>C MANE Select | ENSP00000266126.5:n.164-4G>C | |
| ENST00000266126.9:c.164-4G>C | ENSP00000266126.5:n.164-4G>C | |
| ENST00000553401.5:c.137-4G>C | ENSP00000451681.1:n.137-4G>C | |
| ENST00000553539.1:n.300G>C | ||
| ENST00000555522.1:n.222-4G>C | ||
| ENST00000556028.5:c.164-4G>C | ENSP00000452311.1:n.164-4G>C | |
| NM_014239.3:c.164-4G>C | NP_055054.1:n.164-4G>C | |
| NM_014239.4:c.164-4G>C MANE Select | NP_055054.1:n.164-4G>C |