Linked Data
ClinVar Variation Id:
2971207
ClinVar RCV Id:
RCV003827389
dbSNP Id:
rs1271336698
gnomAD v2:
17-61574291-C-T
gnomAD v3:
17-63496930-C-T
gnomAD v4:
17-63496930-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496930C>T , CM000679.2:g.63496930C>T | GRCh38 |
| NC_000017.10:g.61574291C>T , CM000679.1:g.61574291C>T | GRCh37 |
| NC_000017.9:g.58928023C>T | NCBI36 |
| NG_011648.1:g.24858C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3636C>T MANE Select | ENSP00000290866.4:p.Asn1212= | |
| ENST00000290863.10:c.1914C>T | ENSP00000290863.6:p.Asn638= | |
| ENST00000290866.9:c.3636C>T | ENSP00000290866.4:p.Asn1212= | |
| ENST00000413513.7:c.1791C>T | ENSP00000392247.3:p.Asn597= | |
| ENST00000428043.5:c.3636C>T | ENSP00000397593.2:p.Asn1212= | |
| ENST00000577418.5:n.646C>T | ||
| ENST00000577647.2:c.1914C>T | ENSP00000464149.1:p.Asn638= | |
| ENST00000578839.5:c.*1391C>T | ENSP00000462110.2:n.*1391C>T | |
| ENST00000579314.5:c.*1365C>T | ENSP00000462599.1:n.*1365C>T | |
| ENST00000579409.1:c.323C>T | ||
| ENST00000582244.1:n.510C>T | ||
| NM_000789.3:c.3636C>T | NP_000780.1:p.Asn1212= | |
| NM_001178057.1:c.1791C>T | NP_001171528.1:p.Asn597= | |
| NM_152830.2:c.1914C>T | NP_690043.1:p.Asn638= | |
| XM_005257110.1:c.3087C>T | XP_005257167.1:p.Asn1029= | |
| XM_006721737.2:c.1974C>T | XP_006721800.2:p.Asn658= | |
| XM_006721737.3:c.1974C>T | XP_006721800.2:p.Asn658= | |
| NM_000789.4:c.3636C>T MANE Select | NP_000780.1:p.Asn1212= | |
| NM_001178057.2:c.1791C>T | NP_001171528.1:p.Asn597= | |
| NM_152830.3:c.1914C>T | NP_690043.1:p.Asn638= | |
| NM_001382700.1:c.3069C>T | NP_001369629.1:p.Asn1023= | |
| NM_001382701.1:c.2784C>T | NP_001369630.1:p.Asn928= | |
| NM_001382702.1:c.1251C>T | NP_001369631.1:p.Asn417= | |
| NR_168483.1:n.2014C>T |