Linked Data
dbSNP Id:
rs539261230
gnomAD v2:
19-41930505-G-T
gnomAD v3:
19-41424600-G-T
gnomAD v4:
19-41424600-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424600G>T , CM000681.2:g.41424600G>T | GRCh38 |
| NC_000019.9:g.41930505G>T , CM000681.1:g.41930505G>T | GRCh37 |
| NC_000019.8:g.46622345G>T | NCBI36 |
| NG_013004.1:g.31812G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1330G>T MANE Select | ENSP00000269980.2:p.Asp444Tyr | |
| ENST00000269980.6:c.1330G>T | ENSP00000269980.2:p.Asp444Tyr | |
| ENST00000457836.6:c.1339G>T | ENSP00000416000.2:p.Asp447Tyr | |
| ENST00000540732.3:c.1432G>T | ENSP00000443246.1:p.Asp478Tyr | |
| ENST00000544905.1:c.160G>T | ||
| ENST00000595085.5:c.922+1903G>T | ENSP00000471150.2:n.922+1903G>T | |
| NM_000709.3:c.1330G>T | NP_000700.1:p.Asp444Tyr | |
| NM_001164783.1:c.1327G>T | NP_001158255.1:p.Asp443Tyr | |
| NM_000709.4:c.1330G>T MANE Select | NP_000700.1:p.Asp444Tyr | |
| NM_001164783.2:c.1327G>T | NP_001158255.1:p.Asp443Tyr |