Linked Data
ClinVar Variation Id:
498414
dbSNP Id:
rs1162525817
gnomAD v3:
2-61031860-G-T
gnomAD v4:
2-61031860-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031860G>T , CM000664.2:g.61031860G>T | GRCh38 |
| NC_000002.11:g.61258995G>T , CM000664.1:g.61258995G>T | GRCh37 |
| NC_000002.10:g.61112499G>T | NCBI36 |
| NG_008665.1:g.19184G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.534G>T MANE Select | ENSP00000295030.4:p.Val178= | |
| ENST00000295030.5:c.534G>T | ENSP00000295030.4:p.Val178= | |
| ENST00000472678.1:n.597G>T | ||
| NM_002618.3:c.534G>T | NP_002609.1:p.Val178= | |
| XM_011532904.1:c.417G>T | XP_011531206.1:p.Val139= | |
| NM_002618.4:c.534G>T MANE Select | NP_002609.1:p.Val178= |