Linked Data
dbSNP Id:
rs150293662
ExAC:
1:152284915 A / C
gnomAD v2:
1-152284915-A-C
gnomAD v3:
1-152312439-A-C
gnomAD v4:
1-152312439-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152312439A>C , CM000663.2:g.152312439A>C | GRCh38 |
| NC_000001.10:g.152284915A>C , CM000663.1:g.152284915A>C | GRCh37 |
| NC_000001.9:g.150551539A>C | NCBI36 |
| NG_016190.1:g.17765T>G , LRG_1028:g.17765T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.2447T>G MANE Select | ENSP00000357789.1:p.Val816Gly | |
| ENST00000368799.1:c.2447T>G | ENSP00000357789.1:p.Val816Gly | |
| NM_002016.1:c.2447T>G , LRG_1028t1:c.2447T>G | NP_002007.1:p.Val816Gly | |
| XM_011509329.1:c.2447T>G | XP_011507631.1:p.Val816Gly | |
| NM_002016.2:c.2447T>G MANE Select | NP_002007.1:p.Val816Gly |