Linked Data
dbSNP Id:
rs749905088
ExAC:
2:189868715 C / G
gnomAD v2:
2-189868715-C-G
gnomAD v4:
2-189003989-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189003989C>G , CM000664.2:g.189003989C>G | GRCh38 |
| NC_000002.11:g.189868715C>G , CM000664.1:g.189868715C>G | GRCh37 |
| NC_000002.10:g.189576960C>G | NCBI36 |
| NG_007404.1:g.34617C>G , LRG_3:g.34617C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2570C>G | ENSP00000415346.2:p.Pro857Arg | |
| ENST00000304636.9:c.2669C>G MANE Select | ENSP00000304408.4:p.Pro890Arg | |
| ENST00000304636.7:c.2669C>G | ENSP00000304408.3:p.Pro890Arg | |
| ENST00000317840.9:c.2527+953C>G | ENSP00000315243.6:n.2527+953C>G | |
| NM_000090.3:c.2669C>G , LRG_3t1:c.2669C>G | NP_000081.1:p.Pro890Arg | |
| NM_000090.4:c.2669C>G MANE Select | NP_000081.2:p.Pro890Arg |