Linked Data
ClinVar Variation Id:
305866
dbSNP Id:
rs117995705
ExAC:
11:68707205 C / T
gnomAD v2:
11-68707205-C-T
gnomAD v3:
11-68939737-C-T
gnomAD v4:
11-68939737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939737C>T , CM000673.2:g.68939737C>T | GRCh38 |
| NC_000011.9:g.68707205C>T , CM000673.1:g.68707205C>T | GRCh37 |
| NC_000011.8:g.68463781C>T | NCBI36 |
| NG_007976.1:g.40887C>T , LRG_250:g.40887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.*6C>T MANE Select | ENSP00000255078.4:n.*6C>T | |
| ENST00000675118.1:c.2476C>T | ||
| ENST00000675615.1:c.*187C>T | ENSP00000502413.1:n.*187C>T | |
| ENST00000675648.1:n.2550C>T | ||
| ENST00000675916.1:c.1419C>T | ||
| ENST00000676173.1:n.3733C>T | ||
| ENST00000255078.7:c.*6C>T | ENSP00000255078.3:n.*6C>T | |
| ENST00000543739.5:n.1981C>T | ||
| ENST00000544521.1:n.819C>T | ||
| NM_002180.2:c.*6C>T , LRG_250t1:c.*6C>T | NP_002171.2:n.*6C>T | |
| XM_005273974.2:c.*6C>T | XP_005274031.1:n.*6C>T | |
| XM_005273975.2:c.*6C>T | XP_005274032.1:n.*6C>T | |
| XM_011544994.1:c.*6C>T | XP_011543296.1:n.*6C>T | |
| XR_949903.1:n.3277C>T | ||
| XM_005273975.3:c.*6C>T | XP_005274032.1:n.*6C>T | |
| XM_017017669.2:c.*6C>T | XP_016873158.1:n.*6C>T | |
| XM_017017670.2:c.*6C>T | XP_016873159.1:n.*6C>T | |
| XR_949903.3:n.3273C>T | ||
| NM_002180.3:c.*6C>T MANE Select | NP_002171.2:n.*6C>T |