Linked Data
ClinVar Variation Id:
2358901
ClinVar RCV Id:
RCV002983642
dbSNP Id:
rs116092368
ExAC:
12:125434595 T / G
gnomAD v2:
12-125434595-T-G
gnomAD v3:
12-124950049-T-G
gnomAD v4:
12-124950049-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124950049T>G , CM000674.2:g.124950049T>G | GRCh38 |
| NC_000012.11:g.125434595T>G , CM000674.1:g.125434595T>G | GRCh37 |
| NC_000012.10:g.124000548T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3227A>C MANE Select | ENSP00000311135.2:p.Lys1076Thr | |
| ENST00000544745.2:c.2698A>C | ||
| ENST00000308736.6:c.3227A>C | ENSP00000311135.2:p.Lys1076Thr | |
| ENST00000539298.1:n.3327A>C | ||
| ENST00000542400.5:n.1841A>C | ||
| ENST00000544745.1:c.2588A>C | ENSP00000439009.1:p.Lys863Thr | |
| NM_032656.3:c.3227A>C | NP_116045.2:p.Lys1076Thr | |
| XM_005253590.2:c.3227A>C | XP_005253647.1:p.Lys1076Thr | |
| XM_005253590.3:c.3227A>C | XP_005253647.1:p.Lys1076Thr | |
| XR_001748819.1:n.3367A>C | ||
| XR_001748820.1:n.3320A>C | ||
| NM_032656.4:c.3227A>C MANE Select | NP_116045.2:p.Lys1076Thr |