Linked Data
dbSNP Id:
rs1803088305
gnomAD v3:
7-143341948-T-C
gnomAD v4:
7-143341948-T-C
MyVariant Identifiers:
chr7:g.143039041T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341948T>C , CM000669.2:g.143341948T>C | GRCh38 |
| NC_000007.13:g.143039041T>C , CM000669.1:g.143039041T>C | GRCh37 |
| NC_000007.12:g.142749163T>C | NCBI36 |
| NG_009815.1:g.30823T>C | |
| NG_009815.2:g.30823T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.1602T>C | ENSP00000498052.2:p.Gly534= | |
| ENST00000343257.7:c.1602T>C MANE Select | ENSP00000339867.2:p.Gly534= | |
| ENST00000432192.6:c.1426T>C | ||
| ENST00000343257.6:c.1602T>C | ENSP00000339867.2:p.Gly534= | |
| NM_000083.2:c.1602T>C | NP_000074.2:p.Gly534= | |
| NR_046453.1:n.1542T>C | ||
| XM_011515781.1:c.1626T>C | XP_011514083.1:p.Gly542= | |
| XM_011515782.1:c.348T>C | XP_011514084.1:p.Gly116= | |
| XM_011515782.2:c.348T>C | XP_011514084.1:p.Gly116= | |
| XM_017011739.1:c.1176T>C | XP_016867228.1:p.Gly392= | |
| XM_017011740.1:c.1152T>C | XP_016867229.1:p.Gly384= | |
| NM_000083.3:c.1602T>C MANE Select | NP_000074.3:p.Gly534= | |
| NR_046453.2:n.1557T>C |