Linked Data
dbSNP Id:
rs80356700
gnomAD v2:
7-143018934-G-T
gnomAD v3:
7-143321841-G-T
gnomAD v4:
7-143321841-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321841G>T , CM000669.2:g.143321841G>T | GRCh38 |
| NC_000007.13:g.143018934G>T , CM000669.1:g.143018934G>T | GRCh37 |
| NC_000007.12:g.142729056G>T | NCBI36 |
| NG_009815.1:g.10716G>T | |
| NG_009815.2:g.10716G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.689G>T | ENSP00000498052.2:p.Gly230Val | |
| ENST00000343257.7:c.689G>T MANE Select | ENSP00000339867.2:p.Gly230Val | |
| ENST00000432192.6:c.457G>T | ||
| ENST00000455478.6:c.143G>T | ENSP00000400027.2:p.Gly48Val | |
| ENST00000650516.1:c.689G>T | ENSP00000498052.1:p.Gly230Val | |
| ENST00000343257.6:c.689G>T | ENSP00000339867.2:p.Gly230Val | |
| ENST00000432192.5:c.147G>T | ||
| ENST00000455478.5:c.147G>T | ||
| ENST00000495612.1:n.147G>T | ||
| NM_000083.2:c.689G>T | NP_000074.2:p.Gly230Val | |
| NR_046453.1:n.776G>T | ||
| XM_011515781.1:c.689G>T | XP_011514083.1:p.Gly230Val | |
| XM_017011739.1:c.396G>T | XP_016867228.1:p.Gly132= | |
| XM_017011740.1:c.396G>T | XP_016867229.1:p.Gly132= | |
| NM_000083.3:c.689G>T MANE Select | NP_000074.3:p.Gly230Val | |
| NR_046453.2:n.791G>T |