Linked Data
ClinVar Variation Id:
2136401
ClinVar RCV Id:
RCV003060041
dbSNP Id:
rs762462951
ExAC:
6:47575744 G / T
gnomAD v2:
6-47575744-G-T
gnomAD v3:
6-47608008-G-T
gnomAD v4:
6-47608008-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47608008G>T , CM000668.2:g.47608008G>T | GRCh38 |
| NC_000006.11:g.47575744G>T , CM000668.1:g.47575744G>T | GRCh37 |
| NC_000006.10:g.47683703G>T | NCBI36 |
| NG_008878.1:g.135220G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359314.5:c.1612G>T MANE Select | ENSP00000352264.5:p.Asp538Tyr | |
| ENST00000486693.1:n.137G>T | ||
| NM_012120.2:c.1612G>T | NP_036252.1:p.Asp538Tyr | |
| XM_005248976.1:c.1600G>T | XP_005249033.1:p.Asp534Tyr | |
| XM_005248977.2:c.1612G>T | XP_005249034.1:p.Asp538Tyr | |
| XM_011514449.1:c.1465G>T | XP_011512751.1:p.Asp489Tyr | |
| XM_011514449.2:c.1465G>T | XP_011512751.1:p.Asp489Tyr | |
| NM_012120.3:c.1612G>T MANE Select | NP_036252.1:p.Asp538Tyr |