Linked Data
ClinVar Variation Id:
2054105
ClinVar RCV Id:
RCV002919247
dbSNP Id:
rs376365729
ExAC:
2:24538101 A / G
gnomAD v2:
2-24538101-A-G
gnomAD v3:
2-24315232-A-G
gnomAD v4:
2-24315232-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24315232A>G , CM000664.2:g.24315232A>G | GRCh38 |
| NC_000002.11:g.24538101A>G , CM000664.1:g.24538101A>G | GRCh37 |
| NC_000002.10:g.24391605A>G | NCBI36 |
| NG_029516.1:g.50297T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355123.9:c.32-8T>C MANE Select | ENSP00000347244.4:n.32-8T>C | |
| ENST00000355123.8:c.32-8T>C | ENSP00000347244.4:n.32-8T>C | |
| ENST00000361999.7:c.32-8T>C | ENSP00000354561.2:n.32-8T>C | |
| ENST00000406921.7:c.32-8T>C | ENSP00000384499.3:n.32-8T>C | |
| ENST00000407704.1:n.234-8T>C | ||
| ENST00000412011.5:c.32-8T>C | ENSP00000391224.1:n.32-8T>C | |
| ENST00000443927.5:c.-11-8T>C | ENSP00000391715.1:n.-11-8T>C | |
| ENST00000622089.4:c.62-8T>C | ENSP00000479408.1:n.62-8T>C | |
| NM_006277.2:c.32-8T>C | NP_006268.2:n.32-8T>C | |
| NM_019595.3:c.32-8T>C | NP_062541.3:n.32-8T>C | |
| NM_147152.2:c.32-8T>C | NP_671494.2:n.32-8T>C | |
| NM_001348181.1:c.-11-8T>C | NP_001335110.1:n.-11-8T>C | |
| NM_001348182.1:c.32-8T>C | NP_001335111.1:n.32-8T>C | |
| NM_001348183.1:c.32-8T>C | NP_001335112.1:n.32-8T>C | |
| NM_001348184.1:c.-11-8T>C | NP_001335113.1:n.-11-8T>C | |
| NM_001348185.1:c.32-8T>C | NP_001335114.1:n.32-8T>C | |
| NM_001348186.1:c.32-8T>C | NP_001335115.1:n.32-8T>C | |
| XM_024452930.1:c.32-8T>C | XP_024308698.1:n.32-8T>C | |
| XM_024452931.1:c.32-8T>C | XP_024308699.1:n.32-8T>C | |
| XM_024452932.1:c.-11-8T>C | XP_024308700.1:n.-11-8T>C | |
| XM_024452933.1:c.32-8T>C | XP_024308701.1:n.32-8T>C | |
| XM_024452934.1:c.32-8T>C | XP_024308702.1:n.32-8T>C | |
| XM_024452935.1:c.-11-8T>C | XP_024308703.1:n.-11-8T>C | |
| XM_024452936.1:c.-19T>C | XP_024308704.1:n.-19T>C | |
| XR_002959302.1:n.12T>C | ||
| NM_001348181.2:c.-11-8T>C | NP_001335110.1:n.-11-8T>C | |
| NM_001348182.2:c.32-8T>C | NP_001335111.1:n.32-8T>C | |
| NM_001348183.2:c.32-8T>C | NP_001335112.1:n.32-8T>C | |
| NM_001348184.2:c.-11-8T>C | NP_001335113.1:n.-11-8T>C | |
| NM_001348185.2:c.32-8T>C | NP_001335114.1:n.32-8T>C | |
| NM_001348186.2:c.32-8T>C | NP_001335115.1:n.32-8T>C | |
| NM_006277.3:c.32-8T>C MANE Select | NP_006268.2:n.32-8T>C | |
| NM_019595.4:c.32-8T>C | NP_062541.3:n.32-8T>C | |
| NM_147152.3:c.32-8T>C | NP_671494.2:n.32-8T>C |