Linked Data
dbSNP Id:
rs139117651
gnomAD v4:
7-143351722-C-T
MyVariant Identifiers:
chr7:g.143048815C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351722C>T , CM000669.2:g.143351722C>T | GRCh38 |
| NC_000007.13:g.143048815C>T , CM000669.1:g.143048815C>T | GRCh37 |
| NC_000007.12:g.142758937C>T | NCBI36 |
| NG_009815.1:g.40597C>T | |
| NG_009815.2:g.40597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2724C>T | ENSP00000498052.2:p.Asn908= | |
| ENST00000343257.7:c.2724C>T MANE Select | ENSP00000339867.2:p.Asn908= | |
| ENST00000432192.6:c.2548C>T | ||
| ENST00000343257.6:c.2724C>T | ENSP00000339867.2:p.Asn908= | |
| NM_000083.2:c.2724C>T | NP_000074.2:p.Asn908= | |
| NR_046453.1:n.2664C>T | ||
| XM_011515781.1:c.2748C>T | XP_011514083.1:p.Asn916= | |
| XM_011515782.1:c.1470C>T | XP_011514084.1:p.Asn490= | |
| XM_011515782.2:c.1470C>T | XP_011514084.1:p.Asn490= | |
| XM_017011739.1:c.2298C>T | XP_016867228.1:p.Asn766= | |
| XM_017011740.1:c.2274C>T | XP_016867229.1:p.Asn758= | |
| NM_000083.3:c.2724C>T MANE Select | NP_000074.3:p.Asn908= | |
| NR_046453.2:n.2679C>T |