Linked Data
dbSNP Id:
rs774123403
ExAC:
6:160668290 T / C
gnomAD v2:
6-160668290-T-C
gnomAD v4:
6-160247258-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160247258T>C , CM000668.2:g.160247258T>C | GRCh38 |
| NC_000006.11:g.160668290T>C , CM000668.1:g.160668290T>C | GRCh37 |
| NC_000006.10:g.160588280T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.883A>G MANE Select | ENSP00000355920.3:p.Lys295Glu | |
| ENST00000366952.1:c.820A>G | ENSP00000355919.1:p.Lys274Glu | |
| ENST00000366953.7:c.883A>G | ENSP00000355920.3:p.Lys295Glu | |
| ENST00000491092.1:n.780A>G | ||
| NM_003058.3:c.883A>G | NP_003049.2:p.Lys295Glu | |
| NM_003058.4:c.883A>G MANE Select | NP_003049.2:p.Lys295Glu |