Linked Data
ClinVar Variation Id:
2378235
ClinVar RCV Id:
RCV004211621
dbSNP Id:
rs752143975
ExAC:
1:207785126 G / T
gnomAD v2:
1-207785126-G-T
gnomAD v3:
1-207611781-G-T
gnomAD v4:
1-207611781-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207611781G>T , CM000663.2:g.207611781G>T | GRCh38 |
| NC_000001.10:g.207785126G>T , CM000663.1:g.207785126G>T | GRCh37 |
| NC_000001.9:g.205851749G>T | NCBI36 |
| NG_007481.1:g.120654G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.6400G>T MANE Select | ENSP00000356016.4:p.Asp2134Tyr | |
| ENST00000367051.6:c.5050G>T | ENSP00000356018.1:p.Asp1684Tyr | |
| ENST00000367052.6:c.5050G>T | ENSP00000356019.1:p.Asp1684Tyr | |
| ENST00000367053.6:c.5050G>T | ENSP00000356020.1:p.Asp1684Tyr | |
| ENST00000400960.7:c.5050G>T | ENSP00000383744.2:p.Asp1684Tyr | |
| ENST00000367049.8:c.6400G>T | ENSP00000356016.4:p.Asp2134Tyr | |
| ENST00000367051.5:c.5050G>T | ENSP00000356018.1:p.Asp1684Tyr | |
| ENST00000367052.5:c.5050G>T | ENSP00000356019.1:p.Asp1684Tyr | |
| ENST00000367053.5:c.5050G>T | ENSP00000356020.1:p.Asp1684Tyr | |
| ENST00000400960.6:c.5050G>T | ENSP00000383744.2:p.Asp1684Tyr | |
| ENST00000529814.1:c.1180-4794G>T | ||
| NM_000573.3:c.5050G>T | NP_000564.2:p.Asp1684Tyr | |
| NM_000651.4:c.6400G>T | NP_000642.3:p.Asp2134Tyr | |
| XM_006711166.2:c.6415G>T | XP_006711229.1:p.Asp2139Tyr | |
| XM_011509205.1:c.6415G>T | XP_011507507.1:p.Asp2139Tyr | |
| NM_000651.5:c.6400G>T | NP_000642.3:p.Asp2134Tyr | |
| XM_024453287.1:c.5065G>T | XP_024309055.1:p.Asp1689Tyr | |
| NM_000573.4:c.5050G>T | NP_000564.2:p.Asp1684Tyr | |
| NM_000651.6:c.6400G>T MANE Select | NP_000642.3:p.Asp2134Tyr |