Linked Data
ClinVar Variation Id:
102904
dbSNP Id:
rs199475650
gnomAD v2:
12-103240702-G-T
gnomAD v4:
12-102846924-G-T
ERepo:
CA229863/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846924G>T , CM000674.2:g.102846924G>T | GRCh38 |
| NC_000012.11:g.103240702G>T , CM000674.1:g.103240702G>T | GRCh37 |
| NC_000012.10:g.101764832G>T | NCBI36 |
| NG_008690.1:g.75679C>A | |
| NG_008690.2:g.116487C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.940C>A MANE Select | ENSP00000448059.1:p.Pro314Thr | |
| ENST00000307000.7:c.925C>A | ENSP00000303500.2:p.Pro309Thr | |
| ENST00000549247.6:n.699C>A | ||
| ENST00000551114.2:n.602C>A | ||
| ENST00000553106.5:c.940C>A | ENSP00000448059.1:p.Pro314Thr | |
| ENST00000635477.1:c.74-2493C>A | ||
| ENST00000635528.1:n.455C>A | ||
| NM_000277.1:c.940C>A | NP_000268.1:p.Pro314Thr | |
| XM_011538422.1:c.913-2493C>A | XP_011536724.1:n.913-2493C>A | |
| NM_000277.2:c.940C>A | NP_000268.1:p.Pro314Thr | |
| NM_001354304.1:c.940C>A | NP_001341233.1:p.Pro314Thr | |
| NM_000277.3:c.940C>A MANE Select | NP_000268.1:p.Pro314Thr | |
| NM_001354304.2:c.940C>A | NP_001341233.1:p.Pro314Thr |