Linked Data
ClinVar Variation Id:
306799
dbSNP Id:
rs61935741
ExAC:
12:102153841 T / C
gnomAD v2:
12-102153841-T-C
gnomAD v3:
12-101760063-T-C
gnomAD v4:
12-101760063-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760063T>C , CM000674.2:g.101760063T>C | GRCh38 |
| NC_000012.11:g.102153841T>C , CM000674.1:g.102153841T>C | GRCh37 |
| NC_000012.10:g.100677972T>C | NCBI36 |
| NG_021243.1:g.75805A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3216A>G MANE Select | ENSP00000299314.7:p.Pro1072= | |
| ENST00000299314.11:c.3216A>G | ENSP00000299314.7:p.Pro1072= | |
| ENST00000549194.1:n.82A>G | ||
| ENST00000550718.1:c.28A>G | ||
| NM_024312.4:c.3216A>G | NP_077288.2:p.Pro1072= | |
| XM_006719593.2:c.3216A>G | XP_006719656.1:p.Pro1072= | |
| XM_011538731.1:c.3135A>G | XP_011537033.1:p.Pro1045= | |
| XM_006719593.3:c.3216A>G | XP_006719656.1:p.Pro1072= | |
| XM_011538731.2:c.3135A>G | XP_011537033.1:p.Pro1045= | |
| XM_017019961.1:c.3000A>G | XP_016875450.1:p.Pro1000= | |
| XM_017019962.2:c.1989A>G | XP_016875451.1:p.Pro663= | |
| NM_024312.5:c.3216A>G MANE Select | NP_077288.2:p.Pro1072= |