Linked Data
ClinVar Variation Id:
2690828
ClinVar RCV Id:
RCV003489520
dbSNP Id:
rs574717474
ExAC:
17:61574290 A / C
gnomAD v2:
17-61574290-A-C
gnomAD v3:
17-63496929-A-C
gnomAD v4:
17-63496929-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496929A>C , CM000679.2:g.63496929A>C | GRCh38 |
| NC_000017.10:g.61574290A>C , CM000679.1:g.61574290A>C | GRCh37 |
| NC_000017.9:g.58928022A>C | NCBI36 |
| NG_011648.1:g.24857A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3635A>C MANE Select | ENSP00000290866.4:p.Asn1212Thr | |
| ENST00000290863.10:c.1913A>C | ENSP00000290863.6:p.Asn638Thr | |
| ENST00000290866.9:c.3635A>C | ENSP00000290866.4:p.Asn1212Thr | |
| ENST00000413513.7:c.1790A>C | ENSP00000392247.3:p.Asn597Thr | |
| ENST00000428043.5:c.3635A>C | ENSP00000397593.2:p.Asn1212Thr | |
| ENST00000577418.5:n.645A>C | ||
| ENST00000577647.2:c.1913A>C | ENSP00000464149.1:p.Asn638Thr | |
| ENST00000578839.5:c.*1390A>C | ENSP00000462110.2:n.*1390A>C | |
| ENST00000579314.5:c.*1364A>C | ENSP00000462599.1:n.*1364A>C | |
| ENST00000579409.1:c.322A>C | ||
| ENST00000582244.1:n.509A>C | ||
| NM_000789.3:c.3635A>C | NP_000780.1:p.Asn1212Thr | |
| NM_001178057.1:c.1790A>C | NP_001171528.1:p.Asn597Thr | |
| NM_152830.2:c.1913A>C | NP_690043.1:p.Asn638Thr | |
| XM_005257110.1:c.3086A>C | XP_005257167.1:p.Asn1029Thr | |
| XM_006721737.2:c.1973A>C | XP_006721800.2:p.Asn658Thr | |
| XM_006721737.3:c.1973A>C | XP_006721800.2:p.Asn658Thr | |
| NM_000789.4:c.3635A>C MANE Select | NP_000780.1:p.Asn1212Thr | |
| NM_001178057.2:c.1790A>C | NP_001171528.1:p.Asn597Thr | |
| NM_152830.3:c.1913A>C | NP_690043.1:p.Asn638Thr | |
| NM_001382700.1:c.3068A>C | NP_001369629.1:p.Asn1023Thr | |
| NM_001382701.1:c.2783A>C | NP_001369630.1:p.Asn928Thr | |
| NM_001382702.1:c.1250A>C | NP_001369631.1:p.Asn417Thr | |
| NR_168483.1:n.2013A>C |