Linked Data
ClinVar Variation Id:
974593
ClinVar RCV Id:
RCV001250772
dbSNP Id:
rs1447139472
gnomAD v4:
8-43192305-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43192305G>C , CM000670.2:g.43192305G>C | GRCh38 |
| NC_000008.10:g.43047448G>C , CM000670.1:g.43047448G>C | GRCh37 |
| NC_000008.9:g.43166605G>C | NCBI36 |
| NG_009552.1:g.56857G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1252G>C MANE Select | ENSP00000368965.4:p.Gly418Arg | |
| ENST00000379644.8:c.1252G>C | ENSP00000368965.4:p.Gly418Arg | |
| ENST00000520678.1:n.185G>C | ||
| ENST00000521576.1:c.403G>C | ENSP00000429029.1:p.Gly135Arg | |
| ENST00000524016.5:c.356G>C | ||
| NM_152419.2:c.1252G>C | NP_689632.2:p.Gly418Arg | |
| XM_005273409.1:c.1252G>C | XP_005273466.1:p.Gly418Arg | |
| XM_005273410.1:c.1252G>C | XP_005273467.1:p.Gly418Arg | |
| XM_005273411.1:c.1060G>C | XP_005273468.1:p.Gly354Arg | |
| XM_005273412.2:c.1252G>C | XP_005273469.1:p.Gly418Arg | |
| NM_001363227.1:c.1252G>C | NP_001350156.1:p.Gly418Arg | |
| NM_001363228.1:c.1060G>C | NP_001350157.1:p.Gly354Arg | |
| NM_001363229.1:c.388G>C | NP_001350158.1:p.Gly130Arg | |
| XM_005273412.4:c.1252G>C | XP_005273469.1:p.Gly418Arg | |
| NM_152419.3:c.1252G>C MANE Select | NP_689632.2:p.Gly418Arg | |
| NM_001363227.2:c.1252G>C | NP_001350156.1:p.Gly418Arg | |
| NM_001363228.2:c.1060G>C | NP_001350157.1:p.Gly354Arg | |
| NM_001363229.2:c.388G>C | NP_001350158.1:p.Gly130Arg |