Linked Data
ClinVar Variation Id:
305844
dbSNP Id:
rs140654955
ExAC:
11:68700821 C / T
gnomAD v2:
11-68700821-C-T
gnomAD v3:
11-68933353-C-T
gnomAD v4:
11-68933353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933353C>T , CM000673.2:g.68933353C>T | GRCh38 |
| NC_000011.9:g.68700821C>T , CM000673.1:g.68700821C>T | GRCh37 |
| NC_000011.8:g.68457397C>T | NCBI36 |
| NG_007976.1:g.34503C>T , LRG_250:g.34503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1290C>T MANE Select | ENSP00000255078.4:p.Tyr430= | |
| ENST00000536803.2:n.201C>T | ||
| ENST00000674955.1:c.*7C>T | ENSP00000502463.1:n.*7C>T | |
| ENST00000675118.1:c.778C>T | ||
| ENST00000675205.1:n.55C>T | ||
| ENST00000675310.1:n.427C>T | ||
| ENST00000675615.1:c.1290C>T | ENSP00000502413.1:p.Tyr430= | |
| ENST00000675648.1:n.665C>T | ||
| ENST00000675997.1:n.113-1111C>T | ||
| ENST00000676149.1:n.364C>T | ||
| ENST00000676173.1:n.2035C>T | ||
| ENST00000676228.1:c.*613C>T | ENSP00000502375.1:n.*613C>T | |
| ENST00000255078.7:c.1290C>T | ENSP00000255078.3:p.Tyr430= | |
| ENST00000536803.1:n.399C>T | ||
| ENST00000537458.5:n.407C>T | ||
| ENST00000539064.5:n.1049C>T | ||
| ENST00000543739.5:n.407C>T | ||
| ENST00000568742.1:n.512C>T | ||
| NM_002180.2:c.1290C>T , LRG_250t1:c.1290C>T | NP_002171.2:p.Tyr430= | |
| XM_005273974.2:c.279C>T | XP_005274031.1:p.Tyr93= | |
| XM_005273975.2:c.162C>T | XP_005274032.1:p.Tyr54= | |
| XM_011544994.1:c.57C>T | XP_011543296.1:p.Tyr19= | |
| XR_247198.1:n.2093C>T | ||
| XR_949903.1:n.1392C>T | ||
| XM_005273975.3:c.162C>T | XP_005274032.1:p.Tyr54= | |
| XM_017017669.2:c.279C>T | XP_016873158.1:p.Tyr93= | |
| XM_017017670.2:c.279C>T | XP_016873159.1:p.Tyr93= | |
| XM_017017671.2:c.1290C>T | XP_016873160.1:p.Tyr430= | |
| XR_949903.3:n.1388C>T | ||
| NM_002180.3:c.1290C>T MANE Select | NP_002171.2:p.Tyr430= |