Linked Data
ClinVar Variation Id:
318495
dbSNP Id:
rs149481813
ExAC:
16:23464241 G / C
gnomAD v2:
16-23464241-G-C
gnomAD v3:
16-23452920-G-C
gnomAD v4:
16-23452920-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23452920G>C , CM000678.2:g.23452920G>C | GRCh38 |
| NC_000016.9:g.23464241G>C , CM000678.1:g.23464241G>C | GRCh37 |
| NC_000016.8:g.23371742G>C | NCBI36 |
| NG_021287.1:g.5272C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.75C>G MANE Select | ENSP00000305442.5:p.Ser25= | |
| ENST00000307149.9:c.75C>G | ENSP00000305442.5:p.Ser25= | |
| NM_153603.3:c.75C>G | NP_705831.1:p.Ser25= | |
| XR_429680.1:n.291C>G | ||
| XM_017023870.1:c.-204C>G | XP_016879359.1:n.-204C>G | |
| XR_002957852.1:n.296C>G | ||
| XR_429680.2:n.296C>G | ||
| NM_153603.4:c.75C>G MANE Select | NP_705831.1:p.Ser25= |