Linked Data
ClinVar Variation Id:
972192
ClinVar RCV Id:
RCV001248167
dbSNP Id:
rs773189052
gnomAD v2:
X-15339665-C-G
gnomAD v3:
X-15321543-C-G
gnomAD v4:
X-15321543-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15321543C>G , CM000685.2:g.15321543C>G | GRCh38 |
| NC_000023.10:g.15339665C>G , CM000685.1:g.15339665C>G | GRCh37 |
| NC_000023.9:g.15249586C>G | NCBI36 |
| NG_009786.1:g.18996G>C , LRG_160:g.18996G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1418G>C MANE Select | ENSP00000369820.3:p.Arg473Thr | |
| ENST00000637296.1:c.473G>C | ENSP00000490545.1:p.Arg158Thr | |
| ENST00000637626.1:c.*899G>C | ENSP00000489928.1:n.*899G>C | |
| ENST00000638131.1:c.*679G>C | ENSP00000490483.1:n.*679G>C | |
| ENST00000333590.5:c.1418G>C | ENSP00000369820.3:p.Arg473Thr | |
| ENST00000482148.6:c.911G>C | ENSP00000489528.1:p.Arg304Thr | |
| ENST00000542278.6:c.1418G>C | ENSP00000442653.2:p.Arg473Thr | |
| ENST00000634582.1:c.716G>C | ENSP00000489540.1:p.Arg239Thr | |
| ENST00000635045.1:n.1651G>C | ||
| ENST00000635598.1:c.*687G>C | ENSP00000489207.1:n.*687G>C | |
| ENST00000635631.1:n.759G>C | ||
| NM_002641.3:c.1418G>C , LRG_160t1:c.1418G>C | NP_002632.1:p.Arg473Thr | |
| NM_020473.3:c.716G>C | NP_065206.3:p.Arg239Thr | |
| NR_033835.1:n.1160G>C | ||
| NR_033836.1:n.876G>C | ||
| XM_011545539.1:c.725G>C | XP_011543841.1:p.Arg242Thr | |
| XM_011545539.2:c.725G>C | XP_011543841.1:p.Arg242Thr | |
| NM_002641.4:c.1418G>C MANE Select | NP_002632.1:p.Arg473Thr |