Linked Data
ClinVar Variation Id:
41256
dbSNP Id:
rs281865007
ExAC:
12:102154987 T / C
gnomAD v2:
12-102154987-T-C
gnomAD v4:
12-101761209-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761209T>C , CM000674.2:g.101761209T>C | GRCh38 |
| NC_000012.11:g.102154987T>C , CM000674.1:g.102154987T>C | GRCh37 |
| NC_000012.10:g.100679118T>C | NCBI36 |
| NG_021243.1:g.74659A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.3053A>G MANE Select | ENSP00000299314.7:p.Asp1018Gly | |
| ENST00000299314.11:c.3053A>G | ENSP00000299314.7:p.Asp1018Gly | |
| NM_024312.4:c.3053A>G | NP_077288.2:p.Asp1018Gly | |
| XM_006719593.2:c.3053A>G | XP_006719656.1:p.Asp1018Gly | |
| XM_011538731.1:c.2972A>G | XP_011537033.1:p.Asp991Gly | |
| XM_006719593.3:c.3053A>G | XP_006719656.1:p.Asp1018Gly | |
| XM_011538731.2:c.2972A>G | XP_011537033.1:p.Asp991Gly | |
| XM_017019961.1:c.2837A>G | XP_016875450.1:p.Asp946Gly | |
| XM_017019962.2:c.1826A>G | XP_016875451.1:p.Asp609Gly | |
| NM_024312.5:c.3053A>G MANE Select | NP_077288.2:p.Asp1018Gly |