Linked Data
ClinVar Variation Id:
46015
dbSNP Id:
rs186394654
ExAC:
10:73553333 C / T
gnomAD v2:
10-73553333-C-T
gnomAD v3:
10-71793576-C-T
gnomAD v4:
10-71793576-C-T
PubMed:
PMID:18429043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793576C>T , CM000672.2:g.71793576C>T | GRCh38 |
| NC_000010.10:g.73553333C>T , CM000672.1:g.73553333C>T | GRCh37 |
| NC_000010.9:g.73223339C>T | NCBI36 |
| NG_008835.1:g.401630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6648C>T MANE Select | ENSP00000224721.9:p.Ala2216= | |
| ENST00000224721.10:c.6663C>T | ENSP00000224721.8:p.Ala2221= | |
| ENST00000622827.4:c.6648C>T | ENSP00000483211.1:p.Ala2216= | |
| NM_022124.5:c.6648C>T | NP_071407.4:p.Ala2216= | |
| XM_006717940.2:c.6843C>T | XP_006718003.1:p.Ala2281= | |
| XM_006717942.2:c.6777C>T | XP_006718005.1:p.Ala2259= | |
| XM_011540039.1:c.6840C>T | XP_011538341.1:p.Ala2280= | |
| XM_011540040.1:c.6837C>T | XP_011538342.1:p.Ala2279= | |
| XM_011540041.1:c.6783C>T | XP_011538343.1:p.Ala2261= | |
| XM_011540042.1:c.6753C>T | XP_011538344.1:p.Ala2251= | |
| XM_011540043.1:c.6843C>T | XP_011538345.1:p.Ala2281= | |
| XM_011540044.1:c.6708C>T | XP_011538346.1:p.Ala2236= | |
| XM_011540045.1:c.6843C>T | XP_011538347.1:p.Ala2281= | |
| XM_011540046.1:c.6303C>T | XP_011538348.1:p.Ala2101= | |
| XM_011540047.1:c.5661C>T | XP_011538349.1:p.Ala1887= | |
| XM_011540048.1:c.6843C>T | XP_011538350.1:p.Ala2281= | |
| XM_011540049.1:c.6843C>T | XP_011538351.1:p.Ala2281= | |
| XM_011540050.1:c.6843C>T | XP_011538352.1:p.Ala2281= | |
| XM_011540051.1:c.6843C>T | XP_011538353.1:p.Ala2281= | |
| XM_011540052.1:c.3171C>T | XP_011538354.1:p.Ala1057= | |
| XR_945796.1:n.7086C>T | ||
| NM_022124.6:c.6648C>T MANE Select | NP_071407.4:p.Ala2216= |