Linked Data
dbSNP Id:
rs757187113
ExAC:
8:38002731 G / A
gnomAD v2:
8-38002731-G-A
gnomAD v4:
8-38145213-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145213G>A , CM000670.2:g.38145213G>A | GRCh38 |
| NC_000008.10:g.38002731G>A , CM000670.1:g.38002731G>A | GRCh37 |
| NC_000008.9:g.38121888G>A | NCBI36 |
| NG_011827.1:g.10870C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.744+9C>T MANE Select | ENSP00000276449.3:n.744+9C>T | |
| ENST00000276449.8:c.744+9C>T | ENSP00000276449.3:n.744+9C>T | |
| ENST00000520114.1:n.1887C>T | ||
| ENST00000522050.1:c.586+750C>T | ||
| NM_000349.2:c.744+9C>T | NP_000340.2:n.744+9C>T | |
| XM_006716392.1:c.650+750C>T | XP_006716455.1:n.650+750C>T | |
| NM_000349.3:c.744+9C>T MANE Select | NP_000340.2:n.744+9C>T |