Linked Data
ClinVar Variation Id:
3210249
ClinVar RCV Id:
RCV004500673
dbSNP Id:
rs114283484
gnomAD v2:
16-14351965-A-C
gnomAD v3:
16-14258108-A-C
gnomAD v4:
16-14258108-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14258108A>C , CM000678.2:g.14258108A>C | GRCh38 |
| NC_000016.9:g.14351965A>C , CM000678.1:g.14351965A>C | GRCh37 |
| NC_000016.8:g.14259466A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571589.6:c.2711A>C MANE Select | ENSP00000459626.2:p.Asn904Thr | |
| ENST00000318282.9:c.2561A>C | ENSP00000339086.4:p.Asn854Thr | |
| ENST00000571589.5:c.2711A>C | ENSP00000459626.1:p.Asn904Thr | |
| ENST00000572588.1:n.1979A>C | ||
| ENST00000574045.5:c.2561A>C | ENSP00000459205.1:p.Asn854Thr | |
| NM_001308142.1:c.2711A>C | NP_001295071.1:p.Asn904Thr | |
| NM_014048.3:c.2561A>C | NP_054767.3:p.Asn854Thr | |
| NM_014048.4:c.2561A>C | NP_054767.3:p.Asn854Thr | |
| XM_005255452.2:c.2711A>C | XP_005255509.1:p.Asn904Thr | |
| XM_005255453.3:c.2711A>C | XP_005255510.1:p.Asn904Thr | |
| XM_005255455.2:c.2678A>C | XP_005255512.1:p.Asn893Thr | |
| XM_006720908.2:c.2711A>C | XP_006720971.1:p.Asn904Thr | |
| XM_006720909.2:c.2711A>C | XP_006720972.1:p.Asn904Thr | |
| XM_006720912.2:c.2624A>C | XP_006720975.1:p.Asn875Thr | |
| XM_006720913.1:c.2573A>C | XP_006720976.1:p.Asn858Thr | |
| XM_006720914.1:c.2561A>C | XP_006720977.1:p.Asn854Thr | |
| XM_011522568.1:c.2711A>C | XP_011520870.1:p.Asn904Thr | |
| XM_011522569.1:c.2498A>C | XP_011520871.1:p.Asn833Thr | |
| NM_001365411.1:c.2678A>C | NP_001352340.1:p.Asn893Thr | |
| NM_001365412.1:c.2573A>C | NP_001352341.1:p.Asn858Thr | |
| NM_001365413.1:c.2498A>C | NP_001352342.1:p.Asn833Thr | |
| NM_001365414.1:c.2348A>C | NP_001352343.1:p.Asn783Thr | |
| XM_005255452.3:c.2711A>C | XP_005255509.1:p.Asn904Thr | |
| XM_005255453.5:c.2711A>C | XP_005255510.1:p.Asn904Thr | |
| XM_006720908.4:c.2711A>C | XP_006720971.1:p.Asn904Thr | |
| XM_006720909.4:c.2711A>C | XP_006720972.1:p.Asn904Thr | |
| XM_006720912.4:c.2624A>C | XP_006720975.1:p.Asn875Thr | |
| XM_006720914.2:c.2561A>C | XP_006720977.1:p.Asn854Thr | |
| XM_011522568.2:c.2711A>C | XP_011520870.1:p.Asn904Thr | |
| XM_011522569.2:c.2498A>C | XP_011520871.1:p.Asn833Thr | |
| XM_017023501.2:c.2711A>C | XP_016878990.1:p.Asn904Thr | |
| XM_017023502.1:c.2711A>C | XP_016878991.1:p.Asn904Thr | |
| XM_017023503.2:c.2600A>C | XP_016878992.1:p.Asn867Thr | |
| XM_017023504.1:c.2528A>C | XP_016878993.1:p.Asn843Thr | |
| XM_017023505.2:c.2474A>C | XP_016878994.1:p.Asn825Thr | |
| NM_001308142.2:c.2711A>C MANE Select | NP_001295071.1:p.Asn904Thr | |
| NM_001365411.2:c.2678A>C | NP_001352340.1:p.Asn893Thr | |
| NM_001365412.2:c.2573A>C | NP_001352341.1:p.Asn858Thr | |
| NM_001365413.2:c.2498A>C | NP_001352342.1:p.Asn833Thr | |
| NM_001365414.2:c.2348A>C | NP_001352343.1:p.Asn783Thr |