Linked Data
ClinVar Variation Id:
313469
dbSNP Id:
rs375002099
gnomAD v2:
14-61116028-G-C
gnomAD v3:
14-60649310-G-C
gnomAD v4:
14-60649310-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649310G>C , CM000676.2:g.60649310G>C | GRCh38 |
| NC_000014.8:g.61116028G>C , CM000676.1:g.61116028G>C | GRCh37 |
| NC_000014.7:g.60185781G>C | NCBI36 |
| NG_008231.1:g.5128C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645694.3:c.-121C>G MANE Select | ENSP00000494686.1:n.-121C>G | |
| ENST00000247182.6:c.-121C>G | ENSP00000247182.5:n.-121C>G | |
| ENST00000553535.2:n.248+2625C>G | ||
| ENST00000554986.2:c.42-2733C>G | ENSP00000452700.2:n.42-2733C>G | |
| ENST00000555955.3:n.1197+2625C>G | ||
| NM_005982.3:c.-121C>G | NP_005973.1:n.-121C>G | |
| XM_017021602.2:c.-121C>G | XP_016877091.1:n.-121C>G | |
| NM_005982.4:c.-121C>G MANE Select | NP_005973.1:n.-121C>G |