Linked Data
ClinVar Variation Id:
2935638
ClinVar RCV Id:
RCV003793732
dbSNP Id:
rs773282360
ExAC:
12:14018819 G / T
gnomAD v2:
12-14018819-G-T
gnomAD v4:
12-13865885-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13865885G>T , CM000674.2:g.13865885G>T | GRCh38 |
| NC_000012.11:g.14018819G>T , CM000674.1:g.14018819G>T | GRCh37 |
| NC_000012.10:g.13910086G>T | NCBI36 |
| NG_031854.1:g.119204C>A | |
| NG_031854.2:g.121128C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.324C>A MANE Select | ENSP00000477455.1:p.Ile108= | |
| ENST00000630791.2:c.324C>A | ENSP00000486677.2:p.Ile108= | |
| ENST00000609686.3:c.324C>A | ENSP00000477455.1:p.Ile108= | |
| NM_000834.3:c.324C>A | NP_000825.2:p.Ile108= | |
| XM_011520628.1:c.324C>A | XP_011518930.1:p.Ile108= | |
| XM_011520629.1:c.324C>A | XP_011518931.1:p.Ile108= | |
| XM_011520630.1:c.324C>A | XP_011518932.1:p.Ile108= | |
| NM_000834.4:c.324C>A | NP_000825.2:p.Ile108= | |
| XM_011520628.2:c.324C>A | XP_011518930.1:p.Ile108= | |
| XM_011520629.2:c.324C>A | XP_011518931.1:p.Ile108= | |
| XM_017019219.2:c.324C>A | XP_016874708.1:p.Ile108= | |
| NM_000834.5:c.324C>A MANE Select | NP_000825.2:p.Ile108= |