Linked Data
ClinVar Variation Id:
2840547
ClinVar RCV Id:
RCV003716404
dbSNP Id:
rs1292931957
gnomAD v2:
6-99323277-T-C
gnomAD v3:
6-98875401-T-C
gnomAD v4:
6-98875401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875401T>C , CM000668.2:g.98875401T>C | GRCh38 |
| NC_000006.11:g.99323277T>C , CM000668.1:g.99323277T>C | GRCh37 |
| NC_000006.10:g.99429998T>C | NCBI36 |
| NG_033903.1:g.77606A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1702+14A>G MANE Select | ENSP00000358247.1:n.1702+14A>G | |
| ENST00000229971.2:c.1702+14A>G | ENSP00000229971.1:n.1702+14A>G | |
| ENST00000369244.6:c.1702+14A>G | ENSP00000358247.1:n.1702+14A>G | |
| NM_001278716.1:c.1702+14A>G | NP_001265645.1:n.1702+14A>G | |
| NM_012160.4:c.1702+14A>G | NP_036292.2:n.1702+14A>G | |
| NR_103836.1:n.1747+14A>G | ||
| XM_005266930.1:c.1630+14A>G | XP_005266987.1:n.1630+14A>G | |
| XM_005266930.3:c.1630+14A>G | XP_005266987.1:n.1630+14A>G | |
| XM_017010726.1:c.1702+14A>G | XP_016866215.1:n.1702+14A>G | |
| XM_017010727.2:c.1630+14A>G | XP_016866216.1:n.1630+14A>G | |
| XM_017010728.1:c.976+14A>G | XP_016866217.1:n.976+14A>G | |
| NM_001278716.2:c.1702+14A>G MANE Select | NP_001265645.1:n.1702+14A>G | |
| NR_103836.2:n.1687+14A>G | ||
| NM_012160.5:c.1702+14A>G | NP_036292.2:n.1702+14A>G |