Linked Data
dbSNP Id:
rs367857411
ExAC:
5:14716925 C / T
gnomAD v2:
5-14716925-C-T
gnomAD v3:
5-14716816-C-T
gnomAD v4:
5-14716816-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716816C>T , CM000667.2:g.14716816C>T | GRCh38 |
| NC_000005.9:g.14716925C>T , CM000667.1:g.14716925C>T | GRCh37 |
| NC_000005.8:g.14769925C>T | NCBI36 |
| NG_008273.1:g.159963G>A | |
| NG_008273.2:g.159970G>A | |
| NG_051625.1:g.61023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1031G>A MANE Select | ENSP00000284268.6:p.Trp344Ter | |
| ENST00000284268.6:c.1031G>A | ENSP00000284268.6:p.Trp344Ter | |
| ENST00000502585.1:n.273G>A | ||
| NM_054027.4:c.1031G>A | NP_473368.1:p.Trp344Ter | |
| NM_054027.5:c.1031G>A | NP_473368.1:p.Trp344Ter | |
| XM_017009644.2:c.947G>A | XP_016865133.1:p.Trp316Ter | |
| NM_054027.6:c.1031G>A MANE Select | NP_473368.1:p.Trp344Ter |