Linked Data
ClinVar Variation Id:
349076
dbSNP Id:
rs61218140
ExAC:
4:5630275 T / C
gnomAD v2:
4-5630275-T-C
gnomAD v3:
4-5628548-T-C
gnomAD v4:
4-5628548-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5628548T>C , CM000666.2:g.5628548T>C | GRCh38 |
| NC_000004.11:g.5630275T>C , CM000666.1:g.5630275T>C | GRCh37 |
| NC_000004.10:g.5681176T>C | NCBI36 |
| NG_015821.1:g.86001A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.1886+11A>G MANE Select | ENSP00000342144.5:n.1886+11A>G | |
| ENST00000310917.6:c.1646+11A>G | ENSP00000311683.2:n.1646+11A>G | |
| ENST00000344408.9:c.1886+11A>G | ENSP00000342144.5:n.1886+11A>G | |
| ENST00000475313.5:c.1646+11A>G | ENSP00000431981.1:n.1646+11A>G | |
| ENST00000509670.1:c.*279+11A>G | ENSP00000423876.1:n.*279+11A>G | |
| NM_001166136.1:c.1646+11A>G | NP_001159608.1:n.1646+11A>G | |
| NM_147127.4:c.1886+11A>G | NP_667338.3:n.1886+11A>G | |
| XM_011513392.1:c.1895+11A>G | XP_011511694.1:n.1895+11A>G | |
| XM_011513393.1:c.1895+11A>G | XP_011511695.1:n.1895+11A>G | |
| XM_011513394.1:c.1655+11A>G | XP_011511696.1:n.1655+11A>G | |
| XM_017007736.1:c.1646+11A>G | XP_016863225.1:n.1646+11A>G | |
| XM_017007737.1:c.1646+11A>G | XP_016863226.1:n.1646+11A>G | |
| XM_017007738.1:c.1886+11A>G | XP_016863227.1:n.1886+11A>G | |
| XM_017007739.1:c.206+11A>G | XP_016863228.1:n.206+11A>G | |
| XM_024453893.1:c.206+11A>G | XP_024309661.1:n.206+11A>G | |
| XR_001741141.1:n.1951+11A>G | ||
| NM_147127.5:c.1886+11A>G MANE Select | NP_667338.3:n.1886+11A>G | |
| NM_001166136.2:c.1646+11A>G | NP_001159608.1:n.1646+11A>G |