Linked Data
ClinVar Variation Id:
92786
ClinVar RCV Id:
RCV000078573
RCV000292393
RCV000590232
RCV001518271
RCV001543725
RCV001274621
RCV001543726
dbSNP Id:
rs1129186
ExAC:
6:42932202 C / T
gnomAD v2:
6-42932202-C-T
gnomAD v3:
6-42964464-C-T
gnomAD v4:
6-42964464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964464C>T , CM000668.2:g.42964464C>T | GRCh38 |
| NC_000006.11:g.42932202C>T , CM000668.1:g.42932202C>T | GRCh37 |
| NC_000006.10:g.43040180C>T | NCBI36 |
| NG_008370.1:g.19780G>A | |
| NG_008396.1:g.8703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2814G>A MANE Select | ENSP00000303511.8:p.Glu938= | |
| ENST00000244546.4:c.2567G>A | ENSP00000244546.4:n.2567G>A | |
| ENST00000304611.12:c.2814G>A | ENSP00000303511.8:p.Glu938= | |
| NM_000287.3:c.2814G>A | NP_000278.3:p.Glu938= | |
| NM_001316313.1:c.2550G>A | NP_001303242.1:p.Glu850= | |
| NR_133009.1:n.2660G>A | ||
| XM_011514661.1:c.2730G>A | XP_011512963.1:p.Glu910= | |
| XM_011514661.2:c.2730G>A | XP_011512963.1:p.Glu910= | |
| XR_001743466.2:n.3776G>A | ||
| NM_000287.4:c.2814G>A MANE Select | NP_000278.3:p.Glu938= | |
| NM_001316313.2:c.2550G>A | NP_001303242.1:p.Glu850= | |
| NR_133009.2:n.2598G>A |