Linked Data
ClinVar Variation Id:
1010694
ClinVar RCV Id:
RCV001308367
dbSNP Id:
rs970629633
gnomAD v2:
20-44663642-G-C
gnomAD v4:
20-46035003-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46035003G>C , CM000682.2:g.46035003G>C | GRCh38 |
| NC_000020.10:g.44663642G>C , CM000682.1:g.44663642G>C | GRCh37 |
| NC_000020.9:g.44097049G>C | NCBI36 |
| NG_046341.1:g.18314G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.108G>C MANE Select | ENSP00000243964.4:p.Lys36Asn | |
| ENST00000243964.6:c.108G>C | ENSP00000243964.3:p.Lys36Asn | |
| ENST00000372315.4:n.257G>C | ||
| ENST00000454036.6:c.177G>C | ENSP00000387694.1:p.Lys59Asn | |
| ENST00000539566.3:c.108G>C | ENSP00000446091.1:p.Lys36Asn | |
| ENST00000608944.5:c.-25G>C | ENSP00000476885.2:n.-25G>C | |
| ENST00000616201.4:c.108G>C | ENSP00000484585.1:p.Lys36Asn | |
| ENST00000616202.4:c.108G>C | ENSP00000478369.1:p.Lys36Asn | |
| ENST00000616933.4:c.108G>C | ENSP00000477569.1:p.Lys36Asn | |
| ENST00000622711.4:n.271G>C | ||
| ENST00000625683.2:n.271G>C | ||
| ENST00000626937.2:c.108G>C | ENSP00000485953.1:p.Lys36Asn | |
| ENST00000627290.2:c.108G>C | ENSP00000487449.1:p.Lys36Asn | |
| ENST00000629054.2:n.271G>C | ||
| NM_001134771.1:c.177G>C | NP_001128243.1:p.Lys59Asn | |
| NM_020708.4:c.108G>C | NP_065759.1:p.Lys36Asn | |
| XM_017027981.1:c.177G>C | XP_016883470.1:p.Lys59Asn | |
| NM_001134771.2:c.177G>C | NP_001128243.1:p.Lys59Asn | |
| NM_020708.5:c.108G>C MANE Select | NP_065759.1:p.Lys36Asn |