Linked Data
ClinVar Variation Id:
383042
ClinVar RCV Id:
RCV001703764
dbSNP Id:
rs577925407
ExAC:
16:89165005 C / T
gnomAD v2:
16-89165005-C-T
gnomAD v3:
16-89098597-C-T
gnomAD v4:
16-89098597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89098597C>T , CM000678.2:g.89098597C>T | GRCh38 |
| NC_000016.9:g.89165005C>T , CM000678.1:g.89165005C>T | GRCh37 |
| NC_000016.8:g.87692506C>T | NCBI36 |
| NG_031961.1:g.9789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.-187C>T | ENSP00000320646.4:n.-187C>T | |
| ENST00000614302.5:c.-187C>T MANE Select | ENSP00000479130.1:n.-187C>T | |
| ENST00000317447.8:c.-187C>T | ENSP00000320646.4:n.-187C>T | |
| ENST00000378345.8:c.-129-4007C>T | ENSP00000367596.4:n.-129-4007C>T | |
| ENST00000406948.7:c.-20-2065C>T | ENSP00000384627.3:n.-20-2065C>T | |
| ENST00000537290.5:c.-20-2065C>T | ENSP00000440734.1:n.-20-2065C>T | |
| ENST00000537895.5:c.-129-4007C>T | ENSP00000439201.1:n.-129-4007C>T | |
| ENST00000540697.5:c.-129-4007C>T | ENSP00000445397.1:n.-129-4007C>T | |
| ENST00000541755.2:c.-187C>T | ENSP00000457301.1:n.-187C>T | |
| ENST00000614302.4:c.-187C>T | ENSP00000479130.1:n.-187C>T | |
| NM_001127214.3:c.-20-2065C>T | NP_001120686.1:n.-20-2065C>T | |
| NM_001243279.2:c.-187C>T | NP_001230208.1:n.-187C>T | |
| NM_001284316.1:c.-129-4007C>T | NP_001271245.1:n.-129-4007C>T | |
| NM_174917.4:c.-187C>T | NP_777577.2:n.-187C>T | |
| NR_104293.1:n.195C>T | ||
| XM_005256293.1:c.-187C>T | XP_005256350.1:n.-187C>T | |
| XM_011522942.1:c.-187C>T | XP_011521244.1:n.-187C>T | |
| XM_011522943.1:c.-20-2065C>T | XP_011521245.1:n.-20-2065C>T | |
| XM_011522944.1:c.-187C>T | XP_011521246.1:n.-187C>T | |
| XR_933238.1:n.158C>T | ||
| XR_933239.1:n.158C>T | ||
| XR_933240.1:n.158C>T | ||
| XR_933241.1:n.158C>T | ||
| NR_147928.1:n.195C>T | ||
| NR_147929.1:n.195C>T | ||
| XM_005256293.2:c.-187C>T | XP_005256350.1:n.-187C>T | |
| XM_017023018.1:c.-187C>T | XP_016878507.1:n.-187C>T | |
| XM_017023019.1:c.-187C>T | XP_016878508.1:n.-187C>T | |
| XM_017023021.1:c.-187C>T | XP_016878510.1:n.-187C>T | |
| XM_024450186.1:c.-129-4007C>T | XP_024305954.1:n.-129-4007C>T | |
| XM_024450187.1:c.-129-4007C>T | XP_024305955.1:n.-129-4007C>T | |
| XR_001751864.2:n.157C>T | ||
| XR_001751865.1:n.157C>T | ||
| XR_933238.2:n.157C>T | ||
| XR_933240.3:n.157C>T | ||
| NM_001127214.4:c.-20-2065C>T | NP_001120686.1:n.-20-2065C>T | |
| NM_001243279.3:c.-187C>T MANE Select | NP_001230208.1:n.-187C>T | |
| NM_001284316.2:c.-129-4007C>T | NP_001271245.1:n.-129-4007C>T | |
| NM_174917.5:c.-187C>T | NP_777577.2:n.-187C>T | |
| NR_104293.2:n.152C>T | ||
| NR_147928.2:n.152C>T | ||
| NR_147929.2:n.152C>T |