Linked Data
ClinVar Variation Id:
134839
dbSNP Id:
rs149810307
ExAC:
1:43812237 G / T
gnomAD v2:
1-43812237-G-T
gnomAD v3:
1-43346566-G-T
gnomAD v4:
1-43346566-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43346566G>T , CM000663.2:g.43346566G>T | GRCh38 |
| NC_000001.10:g.43812237G>T , CM000663.1:g.43812237G>T | GRCh37 |
| NC_000001.9:g.43584824G>T | NCBI36 |
| NG_007525.1:g.13763G>T , LRG_510:g.13763G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1102G>T MANE Select | ENSP00000361548.3:p.Val368Leu | |
| ENST00000413998.7:c.1081G>T | ENSP00000414004.3:p.Val361Leu | |
| ENST00000638732.1:n.1102G>T | ||
| ENST00000372470.7:c.1102G>T | ENSP00000361548.3:p.Val368Leu | |
| ENST00000413998.6:c.1102G>T | ENSP00000414004.2:p.Val368Leu | |
| ENST00000612993.1:c.1102G>T | ENSP00000480273.1:p.Val368Leu | |
| NM_005373.2:c.1102G>T , LRG_510t1:c.1102G>T | NP_005364.1:p.Val368Leu | |
| XM_011541478.1:c.1081G>T | XP_011539780.1:p.Val361Leu | |
| XM_017001320.1:c.1273G>T | XP_016856809.1:p.Val425Leu | |
| NM_005373.3:c.1102G>T MANE Select | NP_005364.1:p.Val368Leu |