Linked Data
ClinVar Variation Id:
2514777
ClinVar RCV Id:
RCV003248705
dbSNP Id:
rs756765752
ExAC:
4:88929471 G / C
gnomAD v2:
4-88929471-G-C
gnomAD v4:
4-88008319-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008319G>C , CM000666.2:g.88008319G>C | GRCh38 |
| NC_000004.11:g.88929471G>C , CM000666.1:g.88929471G>C | GRCh37 |
| NC_000004.10:g.89148495G>C | NCBI36 |
| NG_008604.1:g.5652G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.586G>C MANE Select | ENSP00000237596.2:p.Gly196Arg | |
| ENST00000237596.6:c.586G>C | ENSP00000237596.2:p.Gly196Arg | |
| ENST00000506727.1:n.88G>C | ||
| NM_000297.3:c.586G>C | NP_000288.1:p.Gly196Arg | |
| XM_011532028.1:c.586G>C | XP_011530330.1:p.Gly196Arg | |
| XR_244632.2:n.681G>C | ||
| NR_156488.1:n.673G>C | ||
| XM_011532028.2:c.586G>C | XP_011530330.1:p.Gly196Arg | |
| NM_000297.4:c.586G>C MANE Select | NP_000288.1:p.Gly196Arg | |
| NR_156488.2:n.685G>C |