Linked Data
ClinVar Variation Id:
1014068
ClinVar RCV Id:
RCV002241917
dbSNP Id:
rs10043775
gnomAD v4:
5-148425557-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148425557T>G , CM000667.2:g.148425557T>G | GRCh38 |
| NC_000005.9:g.147805120T>G , CM000667.1:g.147805120T>G | GRCh37 |
| NC_000005.8:g.147785313T>G | NCBI36 |
| NG_033871.1:g.46623T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340253.10:c.1774T>G MANE Select | ENSP00000342023.6:p.Ser592Ala | |
| ENST00000296701.10:c.1774T>G | ENSP00000296701.6:p.Ser592Ala | |
| ENST00000340253.9:c.1774T>G | ENSP00000342023.5:p.Ser592Ala | |
| ENST00000394370.7:c.1774T>G | ENSP00000377895.3:p.Ser592Ala | |
| ENST00000513826.1:c.1774T>G | ENSP00000426410.1:p.Ser592Ala | |
| ENST00000514832.1:n.405T>G | ||
| NM_001271723.1:c.1774T>G | NP_001258652.1:p.Ser592Ala | |
| NM_030793.4:c.1774T>G | NP_110420.3:p.Ser592Ala | |
| XM_005268513.1:c.1774T>G | XP_005268570.1:p.Ser592Ala | |
| XM_006714797.1:c.1774T>G | XP_006714860.1:p.Ser592Ala | |
| XM_011537683.1:c.676T>G | XP_011535985.1:p.Ser226Ala | |
| XM_011537684.1:c.574T>G | XP_011535986.1:p.Ser192Ala | |
| NM_205836.2:c.1774T>G | NP_995308.1:p.Ser592Ala | |
| XM_006714797.2:c.1774T>G | XP_006714860.1:p.Ser592Ala | |
| XM_011537684.3:c.574T>G | XP_011535986.1:p.Ser192Ala | |
| XM_017009899.1:c.676T>G | XP_016865388.1:p.Ser226Ala | |
| XM_017009900.2:c.574T>G | XP_016865389.1:p.Ser192Ala | |
| XM_017009901.2:c.676T>G | XP_016865390.1:p.Ser226Ala | |
| XM_017009902.2:c.574T>G | XP_016865391.1:p.Ser192Ala | |
| XM_024446223.1:c.1774T>G | XP_024301991.1:p.Ser592Ala | |
| XR_001742284.1:n.1920T>G | ||
| NM_030793.5:c.1774T>G | NP_110420.3:p.Ser592Ala | |
| NM_205836.3:c.1774T>G MANE Select | NP_995308.1:p.Ser592Ala | |
| NM_001271723.2:c.1774T>G | NP_001258652.1:p.Ser592Ala |