Linked Data
dbSNP Id:
rs761685671
ExAC:
17:61574329 A / C
gnomAD v2:
17-61574329-A-C
gnomAD v4:
17-63496968-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496968A>C , CM000679.2:g.63496968A>C | GRCh38 |
| NC_000017.10:g.61574329A>C , CM000679.1:g.61574329A>C | GRCh37 |
| NC_000017.9:g.58928061A>C | NCBI36 |
| NG_011648.1:g.24896A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3674A>C MANE Select | ENSP00000290866.4:p.Asn1225Thr | |
| ENST00000290863.10:c.1952A>C | ENSP00000290863.6:p.Asn651Thr | |
| ENST00000290866.9:c.3674A>C | ENSP00000290866.4:p.Asn1225Thr | |
| ENST00000413513.7:c.1829A>C | ENSP00000392247.3:p.Asn610Thr | |
| ENST00000428043.5:c.3674A>C | ENSP00000397593.2:p.Asn1225Thr | |
| ENST00000577418.5:n.684A>C | ||
| ENST00000577647.2:c.1952A>C | ENSP00000464149.1:p.Asn651Thr | |
| ENST00000578839.5:c.*1429A>C | ENSP00000462110.2:n.*1429A>C | |
| ENST00000579314.5:c.*1403A>C | ENSP00000462599.1:n.*1403A>C | |
| ENST00000579409.1:c.361A>C | ||
| ENST00000582244.1:n.548A>C | ||
| NM_000789.3:c.3674A>C | NP_000780.1:p.Asn1225Thr | |
| NM_001178057.1:c.1829A>C | NP_001171528.1:p.Asn610Thr | |
| NM_152830.2:c.1952A>C | NP_690043.1:p.Asn651Thr | |
| XM_005257110.1:c.3125A>C | XP_005257167.1:p.Asn1042Thr | |
| XM_006721737.2:c.2012A>C | XP_006721800.2:p.Asn671Thr | |
| XM_006721737.3:c.2012A>C | XP_006721800.2:p.Asn671Thr | |
| NM_000789.4:c.3674A>C MANE Select | NP_000780.1:p.Asn1225Thr | |
| NM_001178057.2:c.1829A>C | NP_001171528.1:p.Asn610Thr | |
| NM_152830.3:c.1952A>C | NP_690043.1:p.Asn651Thr | |
| NM_001382700.1:c.3107A>C | NP_001369629.1:p.Asn1036Thr | |
| NM_001382701.1:c.2822A>C | NP_001369630.1:p.Asn941Thr | |
| NM_001382702.1:c.1289A>C | NP_001369631.1:p.Asn430Thr | |
| NR_168483.1:n.2052A>C |