Linked Data
ClinVar Variation Id:
256831
dbSNP Id:
rs61763143
ExAC:
4:149002667 G / C
gnomAD v2:
4-149002667-G-C
gnomAD v3:
4-148081516-G-C
gnomAD v4:
4-148081516-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148081516G>C , CM000666.2:g.148081516G>C | GRCh38 |
| NC_000004.11:g.149002667G>C , CM000666.1:g.149002667G>C | GRCh37 |
| NC_000004.10:g.149222117G>C | NCBI36 |
| NG_013350.1:g.366006C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2800-17C>G MANE Select | ENSP00000350815.3:n.2800-17C>G | |
| ENST00000342437.8:c.*183-17C>G | ENSP00000343907.4:n.*183-17C>G | |
| ENST00000344721.8:c.2800-17C>G | ENSP00000341390.4:n.2800-17C>G | |
| ENST00000358102.7:c.2800-17C>G | ENSP00000350815.3:n.2800-17C>G | |
| ENST00000511528.1:c.2812-17C>G | ENSP00000421481.1:n.2812-17C>G | |
| ENST00000512865.5:c.2449-17C>G | ENSP00000423510.1:n.2449-17C>G | |
| ENST00000625323.2:c.2812-17C>G | ENSP00000486719.1:n.2812-17C>G | |
| NM_000901.4:c.2800-17C>G | NP_000892.2:n.2800-17C>G | |
| NM_001166104.1:c.2449-17C>G | NP_001159576.1:n.2449-17C>G | |
| XM_011531975.1:c.2812-17C>G | XP_011530277.1:n.2812-17C>G | |
| XM_011531976.1:c.2812-17C>G | XP_011530278.1:n.2812-17C>G | |
| XM_011531977.1:c.2812-17C>G | XP_011530279.1:n.2812-17C>G | |
| NM_001354819.1:c.2449-17C>G | NP_001341748.1:n.2449-17C>G | |
| NR_148974.1:n.2667-17C>G | ||
| NM_000901.5:c.2800-17C>G MANE Select | NP_000892.2:n.2800-17C>G | |
| NM_001166104.2:c.2449-17C>G | NP_001159576.1:n.2449-17C>G | |
| NR_148974.2:n.2561-17C>G |