Linked Data
dbSNP Id:
rs1555494265
ExAC:
16:23428415 G / C
gnomAD v2:
16-23428415-G-C
MyVariant Identifiers:
chr16:g.23428415G>C (hg19)
chr16:g.23428415_23428417delinsCCA (hg19)
chr16:g.23417094G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417094G>C , CM000678.2:g.23417094G>C | GRCh38 |
| NC_000016.9:g.23428415G>C , CM000678.1:g.23428415G>C | GRCh37 |
| NC_000016.8:g.23335916G>C | NCBI36 |
| NG_021287.1:g.41098C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1165C>G MANE Select | ENSP00000305442.5:p.Gln389Glu | |
| ENST00000307149.9:c.1165C>G | ENSP00000305442.5:p.Gln389Glu | |
| ENST00000567821.1:n.200C>G | ||
| NM_153603.3:c.1165C>G | NP_705831.1:p.Gln389Glu | |
| XR_429680.1:n.1381C>G | ||
| XM_017023870.1:c.970C>G | XP_016879359.1:p.Gln324Glu | |
| XR_002957852.1:n.1386C>G | ||
| XR_429680.2:n.1386C>G | ||
| NM_153603.4:c.1165C>G MANE Select | NP_705831.1:p.Gln389Glu |