Linked Data
ClinVar Variation Id:
291573
dbSNP Id:
rs745380720
ExAC:
1:10405939 G / T
gnomAD v2:
1-10405939-G-T
gnomAD v3:
1-10345881-G-T
gnomAD v4:
1-10345881-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10345881G>T , CM000663.2:g.10345881G>T | GRCh38 |
| NC_000001.10:g.10405939G>T , CM000663.1:g.10405939G>T | GRCh37 |
| NC_000001.9:g.10328526G>T | NCBI36 |
| NG_008069.1:g.140176G>T , LRG_252:g.140176G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3788G>T | ENSP00000512668.1:p.Ser1263Ile | |
| ENST00000696503.1:c.3650G>T | ENSP00000512669.1:p.Ser1217Ile | |
| ENST00000696504.1:c.3650G>T | ENSP00000512670.1:p.Ser1217Ile | |
| ENST00000676179.1:c.3725G>T MANE Select | ENSP00000502065.1:p.Ser1242Ile | |
| ENST00000263934.10:c.3587G>T | ENSP00000263934.6:p.Ser1196Ile | |
| ENST00000377081.5:c.3725G>T | ENSP00000366284.1:p.Ser1242Ile | |
| ENST00000377086.5:c.3725G>T | ENSP00000366290.1:p.Ser1242Ile | |
| ENST00000465635.5:n.180G>T | ||
| ENST00000483340.1:n.261G>T | ||
| ENST00000620295.2:c.3683G>T | ENSP00000478500.1:p.Ser1228Ile | |
| ENST00000622724.3:c.3647G>T | ENSP00000480063.1:p.Ser1216Ile | |
| NM_015074.3:c.3587G>T , LRG_252t1:c.3587G>T | NP_055889.2:p.Ser1196Ile | |
| NM_001365951.1:c.3725G>T | NP_001352880.1:p.Ser1242Ile | |
| NM_001365952.1:c.3725G>T | NP_001352881.1:p.Ser1242Ile | |
| NM_001365951.3:c.3725G>T MANE Select | NP_001352880.1:p.Ser1242Ile |