Linked Data
ClinVar Variation Id:
434913
dbSNP Id:
rs1356103698
gnomAD v2:
5-176939164-G-A
gnomAD v4:
5-177512163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177512163G>A , CM000667.2:g.177512163G>A | GRCh38 |
| NC_000005.9:g.176939164G>A , CM000667.1:g.176939164G>A | GRCh37 |
| NC_000005.8:g.176871770G>A | NCBI36 |
| NG_046846.1:g.10164C>T | |
| NG_046846.2:g.9799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330503.12:c.1665C>T MANE Select | ENSP00000330349.8:p.Ala555= | |
| ENST00000507955.6:c.1812C>T | ENSP00000422753.2:n.1812C>T | |
| ENST00000650742.1:n.1648C>T | ||
| ENST00000652565.1:n.780C>T | ||
| ENST00000652618.1:n.1662C>T | ||
| ENST00000652623.1:n.1737C>T | ||
| ENST00000330503.11:c.1719C>T | ENSP00000330349.7:p.Ala573= | |
| ENST00000503078.5:n.1958C>T | ||
| ENST00000505081.5:n.2532C>T | ||
| ENST00000507900.5:n.1169C>T | ||
| ENST00000507955.5:c.1665C>T | ENSP00000422753.1:p.Ala555= | |
| ENST00000512334.5:n.268C>T | ||
| NM_016222.2:c.1665C>T | NP_057306.2:p.Ala555= | |
| XM_006714870.1:c.1287C>T | XP_006714933.1:p.Ala429= | |
| NM_001321732.1:c.1287C>T | NP_001308661.1:p.Ala429= | |
| NM_001321830.1:c.1287C>T | NP_001308759.1:p.Ala429= | |
| NM_016222.3:c.1665C>T | NP_057306.2:p.Ala555= | |
| XM_024446109.1:c.1308C>T | XP_024301877.1:p.Ala436= | |
| NM_016222.4:c.1665C>T MANE Select | NP_057306.2:p.Ala555= | |
| NM_001321732.2:c.1287C>T | NP_001308661.1:p.Ala429= | |
| NM_001321830.2:c.1287C>T | NP_001308759.1:p.Ala429= |