Linked Data
ClinVar Variation Id:
260184
dbSNP Id:
rs185609509
ExAC:
6:47567198 C / T
gnomAD v2:
6-47567198-C-T
gnomAD v3:
6-47599462-C-T
gnomAD v4:
6-47599462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47599462C>T , CM000668.2:g.47599462C>T | GRCh38 |
| NC_000006.11:g.47567198C>T , CM000668.1:g.47567198C>T | GRCh37 |
| NC_000006.10:g.47675157C>T | NCBI36 |
| NG_008878.1:g.126674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359314.5:c.1417+19C>T MANE Select | ENSP00000352264.5:n.1417+19C>T | |
| NM_012120.2:c.1417+19C>T | NP_036252.1:n.1417+19C>T | |
| XM_005248976.1:c.1405+19C>T | XP_005249033.1:n.1405+19C>T | |
| XM_005248977.2:c.1417+19C>T | XP_005249034.1:n.1417+19C>T | |
| XM_011514449.1:c.1270+19C>T | XP_011512751.1:n.1270+19C>T | |
| XM_011514449.2:c.1270+19C>T | XP_011512751.1:n.1270+19C>T | |
| XM_017010641.1:c.1417+19C>T | XP_016866130.1:n.1417+19C>T | |
| NM_012120.3:c.1417+19C>T MANE Select | NP_036252.1:n.1417+19C>T |