Linked Data
dbSNP Id:
rs369197685
ExAC:
8:38002740 C / T
gnomAD v2:
8-38002740-C-T
gnomAD v3:
8-38145222-C-T
gnomAD v4:
8-38145222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145222C>T , CM000670.2:g.38145222C>T | GRCh38 |
| NC_000008.10:g.38002740C>T , CM000670.1:g.38002740C>T | GRCh37 |
| NC_000008.9:g.38121897C>T | NCBI36 |
| NG_011827.1:g.10861G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.744G>A MANE Select | ENSP00000276449.3:p.Lys248= | |
| ENST00000276449.8:c.744G>A | ENSP00000276449.3:p.Lys248= | |
| ENST00000520114.1:n.1878G>A | ||
| ENST00000522050.1:c.586+741G>A | ||
| NM_000349.2:c.744G>A | NP_000340.2:p.Lys248= | |
| XM_006716392.1:c.650+741G>A | XP_006716455.1:n.650+741G>A | |
| NM_000349.3:c.744G>A MANE Select | NP_000340.2:p.Lys248= |