Linked Data
dbSNP Id:
rs747278788
ExAC:
14:74726437 A / C
gnomAD v2:
14-74726437-A-C
gnomAD v3:
14-74259734-A-C
gnomAD v4:
14-74259734-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259734A>C , CM000676.2:g.74259734A>C | GRCh38 |
| NC_000014.8:g.74726437A>C , CM000676.1:g.74726437A>C | GRCh37 |
| NC_000014.7:g.73796190A>C | NCBI36 |
| NG_013092.1:g.25263A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.712A>C MANE Select | ENSP00000261980.2:p.Lys238Gln | |
| ENST00000261980.2:c.712A>C | ENSP00000261980.2:p.Lys238Gln | |
| NM_182894.2:c.712A>C | NP_878314.1:p.Lys238Gln | |
| XM_011536719.1:c.712A>C | XP_011535021.1:p.Lys238Gln | |
| NM_182894.3:c.712A>C MANE Select | NP_878314.1:p.Lys238Gln |