Linked Data
ClinVar Variation Id:
501531
dbSNP Id:
rs767688436
ExAC:
10:90988091 G / C
gnomAD v2:
10-90988091-G-C
gnomAD v4:
10-89228334-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89228334G>C , CM000672.2:g.89228334G>C | GRCh38 |
| NC_000010.10:g.90988091G>C , CM000672.1:g.90988091G>C | GRCh37 |
| NC_000010.9:g.90978071G>C | NCBI36 |
| NG_008194.1:g.28570C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.294C>G MANE Select | ENSP00000337354.5:p.Asn98Lys | |
| ENST00000282673.5:c.294C>G | ENSP00000282673.4:p.Asn98Lys | |
| ENST00000336233.9:c.294C>G | ENSP00000337354.5:p.Asn98Lys | |
| ENST00000371837.5:c.126C>G | ENSP00000360903.1:p.Asn42Lys | |
| ENST00000428800.5:c.294C>G | ENSP00000388415.1:p.Asn98Lys | |
| ENST00000456827.5:c.-55C>G | ENSP00000413019.2:n.-55C>G | |
| NM_000235.3:c.294C>G | NP_000226.2:p.Asn98Lys | |
| NM_001127605.2:c.294C>G | NP_001121077.1:p.Asn98Lys | |
| NM_001288979.1:c.-55C>G | NP_001275908.1:n.-55C>G | |
| XM_024448023.1:c.294C>G | XP_024303791.1:p.Asn98Lys | |
| NM_000235.4:c.294C>G MANE Select | NP_000226.2:p.Asn98Lys | |
| NM_001127605.3:c.294C>G | NP_001121077.1:p.Asn98Lys | |
| NM_001288979.2:c.-55C>G | NP_001275908.1:n.-55C>G |