Linked Data
dbSNP Id:
rs7080
gnomAD v3:
1-230705941-T-A
gnomAD v4:
1-230705941-T-A
MyVariant Identifiers:
chr1:g.230841687T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230705941T>A , CM000663.2:g.230705941T>A | GRCh38 |
| NC_000001.10:g.230841687T>A , CM000663.1:g.230841687T>A | GRCh37 |
| NC_000001.9:g.228908310T>A | NCBI36 |
| NG_008836.1:g.13650A>T | |
| NG_008836.2:g.13650A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.6:c.1089A>T MANE Select | ENSP00000355627.5:p.Leu363= | |
| ENST00000679684.1:c.1089A>T | ENSP00000505981.1:p.Leu363= | |
| ENST00000679738.1:c.1089A>T | ENSP00000505063.1:p.Leu363= | |
| ENST00000679802.1:c.*548A>T | ENSP00000505184.1:n.*548A>T | |
| ENST00000679854.1:n.5394A>T | ||
| ENST00000679957.1:c.1089A>T | ENSP00000506646.1:p.Leu363= | |
| ENST00000680041.1:c.1089A>T | ENSP00000504866.1:p.Leu363= | |
| ENST00000680783.1:c.829+4054A>T | ENSP00000506329.1:n.829+4054A>T | |
| ENST00000681269.1:c.1089A>T | ENSP00000505985.1:p.Leu363= | |
| ENST00000681347.1:n.1600A>T | ||
| ENST00000681514.1:c.1089A>T | ENSP00000505963.1:p.Leu363= | |
| ENST00000681772.1:c.1089A>T | ENSP00000505829.1:p.Leu363= | |
| ENST00000366667.4:c.1116A>T | ENSP00000355627.4:p.Leu372= | |
| NM_000029.3:c.1116A>T | NP_000020.1:p.Leu372= | |
| NM_000029.4:c.1116A>T | NP_000020.1:p.Leu372= | |
| NM_001382817.3:c.1089A>T | NP_001369746.2:p.Leu363= | |
| NM_001384479.1:c.1089A>T MANE Select | NP_001371408.1:p.Leu363= |