Linked Data
ClinVar Variation Id:
351007
dbSNP Id:
rs368776967
ExAC:
5:13714569 G / C
gnomAD v2:
5-13714569-G-C
gnomAD v3:
5-13714460-G-C
gnomAD v4:
5-13714460-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13714460G>C , CM000667.2:g.13714460G>C | GRCh38 |
| NC_000005.9:g.13714569G>C , CM000667.1:g.13714569G>C | GRCh37 |
| NC_000005.8:g.13767569G>C | NCBI36 |
| NG_013081.1:g.235021C>G | |
| NG_013081.2:g.235021C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.403C>G | ||
| ENST00000265104.5:c.13070C>G MANE Select | ENSP00000265104.4:p.Ala4357Gly | |
| ENST00000681290.1:c.13025C>G | ENSP00000505288.1:p.Ala4342Gly | |
| ENST00000265104.4:c.13070C>G | ENSP00000265104.4:p.Ala4357Gly | |
| NM_001369.2:c.13070C>G | NP_001360.1:p.Ala4357Gly | |
| XM_005248262.2:c.13025C>G | XP_005248319.1:p.Ala4342Gly | |
| XM_005248262.3:c.13178C>G | XP_005248319.2:p.Ala4393Gly | |
| XM_017009177.1:c.12813+2855C>G | XP_016864666.1:n.12813+2855C>G | |
| XM_017009178.1:c.12083C>G | XP_016864667.1:p.Ala4028Gly | |
| XM_017009179.2:c.12083C>G | XP_016864668.1:p.Ala4028Gly | |
| XM_017009185.1:c.8267C>G | XP_016864674.1:p.Ala2756Gly | |
| XM_017009186.1:c.7820C>G | XP_016864675.1:p.Ala2607Gly | |
| XM_017009188.1:c.7157C>G | XP_016864677.1:p.Ala2386Gly | |
| XM_024454388.1:c.12083C>G | XP_024310156.1:p.Ala4028Gly | |
| XM_024454389.1:c.11672C>G | XP_024310157.1:p.Ala3891Gly | |
| NM_001369.3:c.13070C>G MANE Select | NP_001360.1:p.Ala4357Gly |