Linked Data
ClinVar Variation Id:
36607
ClinVar RCV Id:
RCV000035534
RCV000030285
RCV000415634
RCV000487942
RCV000415668
RCV000622091
RCV000776144
RCV001086258
RCV001254752
dbSNP Id:
rs193922380
ExAC:
11:47356628 G / C
gnomAD v2:
11-47356628-G-C
gnomAD v3:
11-47335077-G-C
gnomAD v4:
11-47335077-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335077G>C , CM000673.2:g.47335077G>C | GRCh38 |
| NC_000011.9:g.47356628G>C , CM000673.1:g.47356628G>C | GRCh37 |
| NC_000011.8:g.47313204G>C | NCBI36 |
| NG_007667.1:g.22626C>G , LRG_386:g.22626C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2870C>G MANE Select | ENSP00000442795.1:p.Thr957Ser | |
| ENST00000256993.8:c.2870C>G | ENSP00000256993.5:p.Thr957Ser | |
| ENST00000399249.6:c.2870C>G | ENSP00000382193.2:p.Thr957Ser | |
| ENST00000545968.5:c.2870C>G | ENSP00000442795.1:p.Thr957Ser | |
| NM_000256.3:c.2870C>G , LRG_386t1:c.2870C>G MANE Select | NP_000247.2:p.Thr957Ser | |
| XM_011520117.1:c.2852C>G | XP_011518419.1:p.Thr951Ser | |
| XM_011520118.1:c.2789C>G | XP_011518420.1:p.Thr930Ser |