Linked Data
ClinVar Variation Id:
498087
dbSNP Id:
rs762124832
ExAC:
16:23400346 G / A
gnomAD v2:
16-23400346-G-A
gnomAD v3:
16-23389025-G-A
gnomAD v4:
16-23389025-G-A
COSMIC:
COSM3794698
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23389025G>A , CM000678.2:g.23389025G>A | GRCh38 |
| NC_000016.9:g.23400346G>A , CM000678.1:g.23400346G>A | GRCh37 |
| NC_000016.8:g.23307847G>A | NCBI36 |
| NG_021287.1:g.69167C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.2208C>T MANE Select | ENSP00000305442.5:p.Ile736= | |
| ENST00000307149.9:c.2208C>T | ENSP00000305442.5:p.Ile736= | |
| ENST00000561854.1:c.565C>T | ||
| ENST00000566364.1:n.555C>T | ||
| NM_153603.3:c.2208C>T | NP_705831.1:p.Ile736= | |
| XR_429680.1:n.2739C>T | ||
| XM_017023870.1:c.2013C>T | XP_016879359.1:p.Ile671= | |
| XR_002957852.1:n.2847C>T | ||
| XR_429680.2:n.2744C>T | ||
| NM_153603.4:c.2208C>T MANE Select | NP_705831.1:p.Ile736= |