Linked Data
ClinVar Variation Id:
1667586
ClinVar RCV Id:
RCV002189093
dbSNP Id:
rs765486254
ExAC:
12:102155494 T / C
gnomAD v2:
12-102155494-T-C
gnomAD v3:
12-101761716-T-C
gnomAD v4:
12-101761716-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761716T>C , CM000674.2:g.101761716T>C | GRCh38 |
| NC_000012.11:g.102155494T>C , CM000674.1:g.102155494T>C | GRCh37 |
| NC_000012.10:g.100679625T>C | NCBI36 |
| NG_021243.1:g.74152A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2763A>G MANE Select | ENSP00000299314.7:p.Lys921= | |
| ENST00000299314.11:c.2763A>G | ENSP00000299314.7:p.Lys921= | |
| NM_024312.4:c.2763A>G | NP_077288.2:p.Lys921= | |
| XM_006719593.2:c.2763A>G | XP_006719656.1:p.Lys921= | |
| XM_011538731.1:c.2682A>G | XP_011537033.1:p.Lys894= | |
| XM_006719593.3:c.2763A>G | XP_006719656.1:p.Lys921= | |
| XM_011538731.2:c.2682A>G | XP_011537033.1:p.Lys894= | |
| XM_017019961.1:c.2547A>G | XP_016875450.1:p.Lys849= | |
| XM_017019962.2:c.1536A>G | XP_016875451.1:p.Lys512= | |
| NM_024312.5:c.2763A>G MANE Select | NP_077288.2:p.Lys921= |