Linked Data
dbSNP Id:
rs375556198
ExAC:
6:35782544 A / C
gnomAD v2:
6-35782544-A-C
gnomAD v4:
6-35814767-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814767A>C , CM000668.2:g.35814767A>C | GRCh38 |
| NC_000006.11:g.35782544A>C , CM000668.1:g.35782544A>C | GRCh37 |
| NC_000006.10:g.35890522A>C | NCBI36 |
| NG_012184.1:g.14474A>C | |
| NG_012184.2:g.14474A>C | |
| NG_012184.3:g.22562A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.634A>C MANE Select | ENSP00000353346.1:p.Lys212Gln | |
| ENST00000496656.2:n.413A>C | ||
| ENST00000651132.1:c.634A>C | ENSP00000498322.1:p.Lys212Gln | |
| ENST00000651676.1:c.634A>C | ENSP00000498699.1:p.Lys212Gln | |
| ENST00000651994.1:c.*70-4670A>C | ENSP00000498310.1:n.*70-4670A>C | |
| ENST00000652718.1:c.466A>C | ENSP00000498866.1:p.Lys156Gln | |
| ENST00000360215.2:c.634A>C | ENSP00000353346.1:p.Lys212Gln | |
| ENST00000496656.1:n.413A>C | ||
| NM_182548.3:c.634A>C | NP_872354.1:p.Lys212Gln | |
| XM_011514403.1:c.634A>C | XP_011512705.1:p.Lys212Gln | |
| NM_182548.4:c.634A>C MANE Select | NP_872354.1:p.Lys212Gln |