Linked Data
ClinVar Variation Id:
545111
ClinVar RCV Id:
RCV000656334
dbSNP Id:
rs1554047435
gnomAD v4:
5-80451544-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80451544G>T , CM000667.2:g.80451544G>T | GRCh38 |
| NC_000005.9:g.79747363G>T , CM000667.1:g.79747363G>T | GRCh37 |
| NC_000005.8:g.79783119G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505560.5:c.3442G>T MANE Select | ENSP00000426848.1:p.Asp1148Tyr | |
| ENST00000338008.9:c.3442G>T | ENSP00000337159.5:p.Asp1148Tyr | |
| ENST00000505560.4:c.3442G>T | ENSP00000426848.1:p.Asp1148Tyr | |
| ENST00000510158.5:c.3442G>T | ENSP00000423663.1:p.Asp1148Tyr | |
| ENST00000511829.5:n.840G>T | ||
| ENST00000512558.5:n.3580G>T | ||
| NM_001105251.2:c.3442G>T | NP_001098721.1:p.Asp1148Tyr | |
| NM_001284236.1:c.3442G>T | NP_001271165.1:p.Asp1148Tyr | |
| NM_014733.4:c.3442G>T | NP_055548.3:p.Asp1148Tyr | |
| XM_005248632.3:c.3442G>T | XP_005248689.1:p.Asp1148Tyr | |
| XM_011543752.1:c.3442G>T | XP_011542054.1:p.Asp1148Tyr | |
| XM_011543753.1:c.3442G>T | XP_011542055.1:p.Asp1148Tyr | |
| NM_001105251.3:c.3442G>T | NP_001098721.1:p.Asp1148Tyr | |
| NM_001284236.2:c.3442G>T | NP_001271165.1:p.Asp1148Tyr | |
| NM_001349434.1:c.3442G>T | NP_001336363.1:p.Asp1148Tyr | |
| NM_014733.5:c.3442G>T | NP_055548.3:p.Asp1148Tyr | |
| NR_146172.1:n.3953G>T | ||
| NR_146173.1:n.3727G>T | ||
| NR_146174.1:n.3898G>T | ||
| XM_005248632.4:c.3442G>T | XP_005248689.1:p.Asp1148Tyr | |
| XM_017010091.1:c.3442G>T | XP_016865580.1:p.Asp1148Tyr | |
| XM_017010092.2:c.3442G>T | XP_016865581.1:p.Asp1148Tyr | |
| XM_017010096.1:c.721G>T | XP_016865585.1:p.Asp241Tyr | |
| XM_024446270.1:c.3442G>T | XP_024302038.1:p.Asp1148Tyr | |
| XM_024446271.1:c.1006G>T | XP_024302039.1:p.Asp336Tyr | |
| XM_024446272.1:c.1006G>T | XP_024302040.1:p.Asp336Tyr | |
| XM_024446273.1:c.1006G>T | XP_024302041.1:p.Asp336Tyr | |
| XR_001742373.1:n.3622G>T | ||
| XR_001742375.1:n.3871G>T | ||
| XR_001742376.2:n.3243G>T | ||
| XR_001742377.2:n.3433G>T | ||
| XR_001742378.2:n.3288G>T | ||
| XR_001742379.2:n.3243G>T | ||
| XR_001742380.2:n.3749G>T | ||
| XR_001742382.2:n.3770G>T | ||
| XR_002956199.1:n.6643G>T | ||
| NM_001284236.3:c.3442G>T MANE Select | NP_001271165.2:p.Asp1148Tyr | |
| NM_001105251.4:c.3442G>T | NP_001098721.2:p.Asp1148Tyr | |
| NM_001349434.2:c.3442G>T | NP_001336363.2:p.Asp1148Tyr | |
| NM_014733.6:c.3442G>T | NP_055548.4:p.Asp1148Tyr | |
| NR_146172.2:n.3902G>T | ||
| NR_146173.2:n.3676G>T | ||
| NR_146174.2:n.3847G>T |