Linked Data
ClinVar Variation Id:
2802470
ClinVar RCV Id:
RCV003649637
dbSNP Id:
rs1428124212
gnomAD v2:
2-61275884-T-C
gnomAD v4:
2-61048749-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61048749T>C , CM000664.2:g.61048749T>C | GRCh38 |
| NC_000002.11:g.61275884T>C , CM000664.1:g.61275884T>C | GRCh37 |
| NC_000002.10:g.61129388T>C | NCBI36 |
| NG_008665.1:g.36073T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.1191T>C MANE Select | ENSP00000295030.4:p.Asp397= | |
| ENST00000295030.5:c.1191T>C | ENSP00000295030.4:p.Asp397= | |
| NM_002618.3:c.1191T>C | NP_002609.1:p.Asp397= | |
| XM_011532904.1:c.1074T>C | XP_011531206.1:p.Asp358= | |
| NM_002618.4:c.1191T>C MANE Select | NP_002609.1:p.Asp397= |