Linked Data
ClinVar Variation Id:
990600
ClinVar RCV Id:
RCV001278658
dbSNP Id:
rs368310239
ExAC:
8:145639677 G / C
gnomAD v2:
8-145639677-G-C
gnomAD v3:
8-144414293-G-C
gnomAD v4:
8-144414293-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414293G>C , CM000670.2:g.144414293G>C | GRCh38 |
| NC_000008.10:g.145639677G>C , CM000670.1:g.145639677G>C | GRCh37 |
| NC_000008.9:g.145610485G>C | NCBI36 |
| NG_012234.2:g.7598C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1118C>G MANE Select | ENSP00000301305.4:p.Thr373Ser | |
| ENST00000276833.9:c.1043C>G | ENSP00000276833.5:p.Thr348Ser | |
| ENST00000301305.7:c.1118C>G | ENSP00000301305.3:p.Thr373Ser | |
| NM_017767.2:c.1043C>G | NP_060237.2:p.Thr348Ser | |
| NM_130849.3:c.1118C>G | NP_570901.2:p.Thr373Ser | |
| XM_006716599.1:c.1118C>G | XP_006716662.1:p.Thr373Ser | |
| XM_011517153.1:c.836C>G | XP_011515455.1:p.Thr279Ser | |
| XM_024447188.1:c.836C>G | XP_024302956.1:p.Thr279Ser | |
| XM_024447189.1:c.836C>G | XP_024302957.1:p.Thr279Ser | |
| NM_001374839.1:c.836C>G | NP_001361768.1:p.Thr279Ser | |
| NM_017767.3:c.1043C>G | NP_060237.3:p.Thr348Ser | |
| NM_130849.4:c.1118C>G MANE Select | NP_570901.3:p.Thr373Ser |