Linked Data
ClinVar Variation Id:
1276638
ClinVar RCV Id:
RCV001687830
dbSNP Id:
rs2291120
gnomAD v2:
11-47237680-T-C
gnomAD v3:
11-47216129-T-C
gnomAD v4:
11-47216129-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47216129T>C , CM000673.2:g.47216129T>C | GRCh38 |
| NC_000011.9:g.47237680T>C , CM000673.1:g.47237680T>C | GRCh37 |
| NC_000011.8:g.47194256T>C | NCBI36 |
| NG_009365.1:g.6188T>C , LRG_467:g.6188T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256996.9:c.128-207T>C MANE Select | ENSP00000256996.4:n.128-207T>C | |
| ENST00000256996.8:c.128-207T>C | ENSP00000256996.3:n.128-207T>C | |
| ENST00000378600.7:c.128-207T>C | ENSP00000367863.3:n.128-207T>C | |
| ENST00000378601.7:c.128-207T>C | ENSP00000367864.3:n.128-207T>C | |
| ENST00000378603.7:c.128-207T>C | ENSP00000367866.3:n.128-207T>C | |
| ENST00000610805.4:c.128-65T>C | ENSP00000478063.1:n.128-65T>C | |
| ENST00000612309.4:n.1035T>C | ||
| ENST00000614825.4:c.128-207T>C | ENSP00000483718.1:n.128-207T>C | |
| ENST00000615695.1:n.207-207T>C | ||
| ENST00000616278.4:c.128-207T>C | ENSP00000478411.1:n.128-207T>C | |
| ENST00000617022.4:n.1018T>C | ||
| ENST00000622090.4:c.137-207T>C | ENSP00000479994.1:n.137-207T>C | |
| ENST00000622878.4:c.128-207T>C | ENSP00000479196.1:n.128-207T>C | |
| NM_000107.2:c.128-207T>C , LRG_467t1:c.128-207T>C | NP_000098.1:n.128-207T>C | |
| NM_001300734.1:c.128-207T>C | NP_001287663.1:n.128-207T>C | |
| XR_242780.3:n.296-207T>C | ||
| XR_242780.4:n.296-207T>C | ||
| NM_000107.3:c.128-207T>C MANE Select | NP_000098.1:n.128-207T>C | |
| NM_001300734.2:c.128-207T>C | NP_001287663.1:n.128-207T>C | |
| NM_001399874.1:c.128-207T>C | NP_001386803.1:n.128-207T>C | |
| NM_001399875.1:c.128-207T>C | NP_001386804.1:n.128-207T>C | |
| NM_001399876.1:c.128-207T>C | NP_001386805.1:n.128-207T>C | |
| NM_001399878.1:c.128-207T>C | NP_001386807.1:n.128-207T>C | |
| NR_174610.1:n.415-65T>C | ||
| NR_174611.1:n.415-207T>C |