Linked Data
dbSNP Id:
rs782166426
ExAC:
10:48388877 C / A
gnomAD v2:
10-48388877-C-A
gnomAD v4:
10-47350485-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350485G>T , CM000672.2:g.47350485G>T | GRCh38 |
| NC_000010.10:g.48388877C>A , CM000672.1:g.48388877C>A | GRCh37 |
| NC_000010.9:g.48008883C>A | NCBI36 |
| NG_029718.1:g.7115G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2001G>T MANE Select | ENSP00000463151.1:p.Lys667Asn | |
| ENST00000584701.1:c.2001G>T | ENSP00000463151.1:p.Lys667Asn | |
| NM_002900.2:c.2001G>T | NP_002891.1:p.Lys667Asn | |
| NM_002900.3:c.2001G>T MANE Select | NP_002891.1:p.Lys667Asn |