Linked Data
ClinVar Variation Id:
92783
ClinVar RCV Id:
RCV000078570
RCV000676100
RCV001163760
RCV001276626
RCV001083809
RCV004549500
RCV002483131
dbSNP Id:
rs398123304
ExAC:
6:42946679 C / T
gnomAD v2:
6-42946679-C-T
gnomAD v3:
6-42978941-C-T
gnomAD v4:
6-42978941-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42978941C>T , CM000668.2:g.42978941C>T | GRCh38 |
| NC_000006.11:g.42946679C>T , CM000668.1:g.42946679C>T | GRCh37 |
| NC_000006.10:g.43054657C>T | NCBI36 |
| NG_008370.1:g.5303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.210G>A MANE Select | ENSP00000303511.8:p.Gly70= | |
| ENST00000244546.4:c.210G>A | ENSP00000244546.4:p.Gly70= | |
| ENST00000304611.12:c.210G>A | ENSP00000303511.8:p.Gly70= | |
| NM_000287.3:c.210G>A | NP_000278.3:p.Gly70= | |
| NM_001316313.1:c.210G>A | NP_001303242.1:p.Gly70= | |
| NR_133009.1:n.303G>A | ||
| XM_011514661.1:c.210G>A | XP_011512963.1:p.Gly70= | |
| XR_926246.1:n.303G>A | ||
| XM_011514661.2:c.210G>A | XP_011512963.1:p.Gly70= | |
| XR_001743466.2:n.1284G>A | ||
| NM_000287.4:c.210G>A MANE Select | NP_000278.3:p.Gly70= | |
| NM_001316313.2:c.210G>A | NP_001303242.1:p.Gly70= | |
| NR_133009.2:n.241G>A |