Linked Data
dbSNP Id:
rs765966661
ExAC:
1:152283356 A / G
gnomAD v2:
1-152283356-A-G
gnomAD v3:
1-152310880-A-G
gnomAD v4:
1-152310880-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310880A>G , CM000663.2:g.152310880A>G | GRCh38 |
| NC_000001.10:g.152283356A>G , CM000663.1:g.152283356A>G | GRCh37 |
| NC_000001.9:g.150549980A>G | NCBI36 |
| NG_016190.1:g.19324T>C , LRG_1028:g.19324T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.4006T>C MANE Select | ENSP00000357789.1:p.Ser1336Pro | |
| ENST00000368799.1:c.4006T>C | ENSP00000357789.1:p.Ser1336Pro | |
| NM_002016.1:c.4006T>C , LRG_1028t1:c.4006T>C | NP_002007.1:p.Ser1336Pro | |
| XM_011509329.1:c.4006T>C | XP_011507631.1:p.Ser1336Pro | |
| NM_002016.2:c.4006T>C MANE Select | NP_002007.1:p.Ser1336Pro |