Linked Data
ClinVar Variation Id:
383538
ClinVar RCV Id:
RCV000434873
dbSNP Id:
rs111929073
gnomAD v4:
2-188999471-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999471G>C , CM000664.2:g.188999471G>C | GRCh38 |
| NC_000002.11:g.189864197G>C , CM000664.1:g.189864197G>C | GRCh37 |
| NC_000002.10:g.189572442G>C | NCBI36 |
| NG_007404.1:g.30099G>C , LRG_3:g.30099G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.2024G>C | ENSP00000415346.2:p.Gly675Ala | |
| ENST00000304636.9:c.2123G>C MANE Select | ENSP00000304408.4:p.Gly708Ala | |
| ENST00000304636.7:c.2123G>C | ENSP00000304408.3:p.Gly708Ala | |
| ENST00000317840.9:c.2123G>C | ENSP00000315243.6:p.Gly708Ala | |
| NM_000090.3:c.2123G>C , LRG_3t1:c.2123G>C | NP_000081.1:p.Gly708Ala | |
| NM_000090.4:c.2123G>C MANE Select | NP_000081.2:p.Gly708Ala |