Linked Data
ClinVar Variation Id:
376102
ClinVar RCV Id:
RCV000421989
dbSNP Id:
rs376588714
ExAC:
13:28592620 T / C
gnomAD v2:
13-28592620-T-C
gnomAD v3:
13-28018483-T-C
gnomAD v4:
13-28018483-T-C
COSMIC:
COSM19692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018483T>C , CM000675.2:g.28018483T>C | GRCh38 |
| NC_000013.10:g.28592620T>C , CM000675.1:g.28592620T>C | GRCh37 |
| NC_000013.9:g.27490620T>C | NCBI36 |
| NG_007066.1:g.87086A>G , LRG_457:g.87086A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2525A>G MANE Select | ENSP00000241453.7:p.Tyr842Cys | |
| ENST00000241453.11:c.2525A>G | ENSP00000241453.7:p.Tyr842Cys | |
| ENST00000380987.2:c.*437A>G | ENSP00000370374.2:n.*437A>G | |
| NM_004119.2:c.2525A>G , LRG_457t1:c.2525A>G | NP_004110.2:p.Tyr842Cys | |
| NR_130706.1:n.2739A>G | ||
| XM_011535015.1:c.2468A>G | XP_011533317.1:p.Tyr823Cys | |
| XM_011535016.1:c.2000A>G | XP_011533318.1:p.Tyr667Cys | |
| XM_011535017.1:c.2000A>G | XP_011533319.1:p.Tyr667Cys | |
| XM_011535018.1:c.2000A>G | XP_011533320.1:p.Tyr667Cys | |
| XM_011535015.2:c.2468A>G | XP_011533317.1:p.Tyr823Cys | |
| XM_011535017.2:c.2000A>G | XP_011533319.1:p.Tyr667Cys | |
| XM_011535018.2:c.2000A>G | XP_011533320.1:p.Tyr667Cys | |
| XM_017020486.1:c.2309A>G | XP_016875975.1:p.Tyr770Cys | |
| XM_017020487.1:c.2000A>G | XP_016875976.1:p.Tyr667Cys | |
| XM_017020488.1:c.1646A>G | XP_016875977.1:p.Tyr549Cys | |
| XM_017020489.1:c.1628A>G | XP_016875978.1:p.Tyr543Cys | |
| NM_004119.3:c.2525A>G MANE Select | NP_004110.2:p.Tyr842Cys | |
| NR_130706.2:n.2723A>G |