Linked Data
dbSNP Id:
rs1803414448
gnomAD v4:
7-143351749-T-C
MyVariant Identifiers:
chr7:g.143048842T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351749T>C , CM000669.2:g.143351749T>C | GRCh38 |
| NC_000007.13:g.143048842T>C , CM000669.1:g.143048842T>C | GRCh37 |
| NC_000007.12:g.142758964T>C | NCBI36 |
| NG_009815.1:g.40624T>C | |
| NG_009815.2:g.40624T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2751T>C | ENSP00000498052.2:p.Thr917= | |
| ENST00000343257.7:c.2751T>C MANE Select | ENSP00000339867.2:p.Thr917= | |
| ENST00000343257.6:c.2751T>C | ENSP00000339867.2:p.Thr917= | |
| NM_000083.2:c.2751T>C | NP_000074.2:p.Thr917= | |
| NR_046453.1:n.2691T>C | ||
| XM_011515781.1:c.2775T>C | XP_011514083.1:p.Thr925= | |
| XM_011515782.1:c.1497T>C | XP_011514084.1:p.Thr499= | |
| XM_011515782.2:c.1497T>C | XP_011514084.1:p.Thr499= | |
| XM_017011739.1:c.2325T>C | XP_016867228.1:p.Thr775= | |
| XM_017011740.1:c.2301T>C | XP_016867229.1:p.Thr767= | |
| NM_000083.3:c.2751T>C MANE Select | NP_000074.3:p.Thr917= | |
| NR_046453.2:n.2706T>C |