Linked Data
ClinVar Variation Id:
1018198
ClinVar RCV Id:
RCV001317464
dbSNP Id:
rs370486600
ExAC:
2:97427165 G / C
gnomAD v2:
2-97427165-G-C
gnomAD v3:
2-96761428-G-C
gnomAD v4:
2-96761428-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761428G>C , CM000664.2:g.96761428G>C | GRCh38 |
| NC_000002.11:g.97427165G>C , CM000664.1:g.97427165G>C | GRCh37 |
| NC_000002.10:g.96790892G>C | NCBI36 |
| NG_016608.1:g.5527G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.429G>C MANE Select | ENSP00000366275.2:p.Glu143Asp | |
| ENST00000377075.2:c.429G>C | ENSP00000366275.2:p.Glu143Asp | |
| NM_020184.3:c.429G>C | NP_064569.3:p.Glu143Asp | |
| XM_005263914.2:c.429G>C | XP_005263971.1:p.Glu143Asp | |
| XM_005263915.2:c.429G>C | XP_005263972.1:p.Glu143Asp | |
| XM_011510955.1:c.429G>C | XP_011509257.1:p.Glu143Asp | |
| XM_011510956.1:c.429G>C | XP_011509258.1:p.Glu143Asp | |
| XM_005263914.4:c.429G>C | XP_005263971.1:p.Glu143Asp | |
| XM_005263915.4:c.429G>C | XP_005263972.1:p.Glu143Asp | |
| XM_011510955.3:c.429G>C | XP_011509257.1:p.Glu143Asp | |
| XM_011510956.3:c.429G>C | XP_011509258.1:p.Glu143Asp | |
| NM_020184.4:c.429G>C MANE Select | NP_064569.3:p.Glu143Asp |