Linked Data
dbSNP Id:
rs200192869
ExAC:
7:87144597 T / G
gnomAD v2:
7-87144597-T-G
gnomAD v4:
7-87515281-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87515281T>G , CM000669.2:g.87515281T>G | GRCh38 |
| NC_000007.13:g.87144597T>G , CM000669.1:g.87144597T>G | GRCh37 |
| NC_000007.12:g.86982533T>G | NCBI36 |
| NG_011513.1:g.202968A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.3232A>C | ENSP00000265724.3:p.Thr1078Pro | |
| ENST00000622132.5:c.3232A>C MANE Select | ENSP00000478255.1:p.Thr1078Pro | |
| ENST00000265724.7:c.3232A>C | ENSP00000265724.3:p.Thr1078Pro | |
| ENST00000475929.5:n.388A>C | ||
| ENST00000488737.6:n.874A>C | ||
| ENST00000496821.5:n.860A>C | ||
| ENST00000543898.5:c.3040A>C | ENSP00000444095.1:p.Thr1014Pro | |
| ENST00000622132.4:c.3232A>C | ENSP00000478255.1:p.Thr1078Pro | |
| NM_000927.4:c.3232A>C | NP_000918.2:p.Thr1078Pro | |
| NM_001348944.1:c.3232A>C | NP_001335873.1:p.Thr1078Pro | |
| NM_001348945.1:c.3442A>C | NP_001335874.1:p.Thr1148Pro | |
| NM_001348946.1:c.3232A>C | NP_001335875.1:p.Thr1078Pro | |
| NM_001348946.2:c.3232A>C MANE Select | NP_001335875.1:p.Thr1078Pro | |
| NM_000927.5:c.3232A>C | NP_000918.2:p.Thr1078Pro | |
| NM_001348944.2:c.3232A>C | NP_001335873.1:p.Thr1078Pro | |
| NM_001348945.2:c.3442A>C | NP_001335874.1:p.Thr1148Pro |