Linked Data
ClinVar Variation Id:
93990
dbSNP Id:
rs140115881
ExAC:
1:100671780 A / C
gnomAD v2:
1-100671780-A-C
gnomAD v3:
1-100206224-A-C
gnomAD v4:
1-100206224-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100206224A>C , CM000663.2:g.100206224A>C | GRCh38 |
| NC_000001.10:g.100671780A>C , CM000663.1:g.100671780A>C | GRCh37 |
| NC_000001.9:g.100444368A>C | NCBI36 |
| NG_011852.2:g.48630T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681617.1:c.1407+6T>G | ENSP00000505544.1:n.1407+6T>G | |
| ENST00000681780.1:c.738+6T>G | ENSP00000505780.1:n.738+6T>G | |
| ENST00000370132.8:c.1281+6T>G MANE Select | ENSP00000359151.3:n.1281+6T>G | |
| NM_001918.3:c.1281+6T>G | NP_001909.3:n.1281+6T>G | |
| XM_005270545.2:c.738+6T>G | XP_005270602.1:n.738+6T>G | |
| XM_005270546.2:c.738+6T>G | XP_005270603.1:n.738+6T>G | |
| XM_005270545.4:c.738+6T>G | XP_005270602.1:n.738+6T>G | |
| XM_017000468.2:c.738+6T>G | XP_016855957.1:n.738+6T>G | |
| XM_017000469.2:c.738+6T>G | XP_016855958.1:n.738+6T>G | |
| NM_001918.4:c.1281+6T>G | NP_001909.3:n.1281+6T>G | |
| NM_001918.5:c.1281+6T>G MANE Select | NP_001909.4:n.1281+6T>G | |
| NM_001399969.1:c.738+6T>G | NP_001386898.1:n.738+6T>G | |
| NM_001399972.1:c.738+6T>G | NP_001386901.1:n.738+6T>G | |
| NR_174363.1:n.1113+6T>G | ||
| NR_174364.1:n.1295+6T>G | ||
| NR_174365.1:n.1078+6T>G | ||
| NR_174366.1:n.1380+6T>G |