Linked Data
dbSNP Id:
rs768256055
gnomAD v4:
14-77286776-G-T
MyVariant Identifiers:
chr14:g.77753119G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286776G>T , CM000676.2:g.77286776G>T | GRCh38 |
| NC_000014.8:g.77753119G>T , CM000676.1:g.77753119G>T | GRCh37 |
| NC_000014.7:g.76822872G>T | NCBI36 |
| NG_008897.1:g.39107C>A , LRG_844:g.39107C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.841C>A | ENSP00000451967.2:p.Arg281= | |
| ENST00000682247.1:c.1300C>A | ENSP00000507213.1:p.Arg434= | |
| ENST00000682382.1:c.872C>A | ||
| ENST00000682395.1:n.1478C>A | ||
| ENST00000682459.1:n.1003C>A | ||
| ENST00000682467.1:c.1300C>A | ENSP00000508062.1:p.Arg434= | |
| ENST00000682706.1:n.77C>A | ||
| ENST00000682795.1:c.1300C>A | ENSP00000507574.1:p.Arg434= | |
| ENST00000682895.1:n.1016C>A | ||
| ENST00000682955.1:n.588C>A | ||
| ENST00000683188.1:c.1275C>A | ||
| ENST00000683328.1:c.293C>A | ENSP00000508096.1:n.293C>A | |
| ENST00000683380.1:n.964C>A | ||
| ENST00000683828.1:c.1009C>A | ||
| ENST00000684259.1:n.1151C>A | ||
| ENST00000684444.1:c.47C>A | ||
| ENST00000684549.1:n.851C>A | ||
| ENST00000261534.9:c.1300C>A MANE Select | ENSP00000261534.4:p.Arg434= | |
| ENST00000261534.8:c.1300C>A | ENSP00000261534.4:p.Arg434= | |
| ENST00000452340.7:n.1323C>A | ||
| ENST00000553880.5:n.171C>A | ||
| ENST00000554767.5:n.2086C>A | ||
| ENST00000554884.5:n.292C>A | ||
| ENST00000556404.1:n.434C>A | ||
| ENST00000556851.1:n.336C>A | ||
| ENST00000557675.5:n.390C>A | ||
| NM_013382.5:c.1300C>A , LRG_844t1:c.1300C>A | NP_037514.2:p.Arg434= | |
| XM_011536675.1:c.1300C>A | XP_011534977.1:p.Arg434= | |
| XM_011536676.1:c.967C>A | XP_011534978.1:p.Arg323= | |
| XM_011536677.1:c.841C>A | XP_011534979.1:p.Arg281= | |
| XM_011536678.1:c.1300C>A | XP_011534980.1:p.Arg434= | |
| XM_011536679.1:c.394C>A | XP_011534981.1:p.Arg132= | |
| XR_943416.1:n.1503C>A | ||
| XM_011536675.2:c.1300C>A | XP_011534977.1:p.Arg434= | |
| XM_011536676.2:c.967C>A | XP_011534978.1:p.Arg323= | |
| XM_011536677.3:c.841C>A | XP_011534979.1:p.Arg281= | |
| XR_001750279.1:n.1500C>A | ||
| XR_001750282.1:n.1953C>A | ||
| XR_943416.3:n.1501C>A | ||
| NM_013382.6:c.1300C>A | NP_037514.2:p.Arg434= | |
| NM_013382.7:c.1300C>A MANE Select | NP_037514.2:p.Arg434= |