Linked Data
dbSNP Id:
rs769783795
ExAC:
7:107557900 A / C
gnomAD v2:
7-107557900-A-C
gnomAD v4:
7-107917455-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107917455A>C , CM000669.2:g.107917455A>C | GRCh38 |
| NC_000007.13:g.107557900A>C , CM000669.1:g.107557900A>C | GRCh37 |
| NC_000007.12:g.107345136A>C | NCBI36 |
| NG_008045.1:g.31315A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1229A>C MANE Select | ENSP00000205402.3:p.Lys410Thr | |
| ENST00000205402.9:c.1229A>C | ENSP00000205402.3:p.Lys410Thr | |
| ENST00000415325.5:c.*903A>C | ENSP00000402593.1:n.*903A>C | |
| ENST00000417551.5:c.1229A>C | ENSP00000390667.1:p.Lys410Thr | |
| ENST00000437604.6:c.1085A>C | ENSP00000387542.2:p.Lys362Thr | |
| ENST00000440410.5:c.1160A>C | ENSP00000417016.1:p.Lys387Thr | |
| NM_000108.4:c.1229A>C | NP_000099.2:p.Lys410Thr | |
| NM_001289750.1:c.932A>C | NP_001276679.1:p.Lys311Thr | |
| NM_001289751.1:c.1160A>C | NP_001276680.1:p.Lys387Thr | |
| NM_001289752.1:c.1085A>C | NP_001276681.1:p.Lys362Thr | |
| NM_000108.5:c.1229A>C MANE Select | NP_000099.2:p.Lys410Thr |