Linked Data
dbSNP Id:
rs756373499
ExAC:
1:115256468 T / C
gnomAD v2:
1-115256468-T-C
gnomAD v4:
1-114713847-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713847T>C , CM000663.2:g.114713847T>C | GRCh38 |
| NC_000001.10:g.115256468T>C , CM000663.1:g.115256468T>C | GRCh37 |
| NC_000001.9:g.115057991T>C | NCBI36 |
| NG_007572.1:g.8048A>G , LRG_92:g.8048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.243A>G MANE Select | ENSP00000358548.4:p.Val81= | |
| ENST00000369535.4:c.243A>G | ENSP00000358548.4:p.Val81= | |
| NM_002524.4:c.243A>G | NP_002515.1:p.Val81= | |
| NM_002524.5:c.243A>G MANE Select | NP_002515.1:p.Val81= |