Linked Data
ClinVar Variation Id:
3029935
ClinVar RCV Id:
RCV003899185
dbSNP Id:
rs1570011038
gnomAD v4:
1-8355597-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8355597T>G , CM000663.2:g.8355597T>G | GRCh38 |
| NC_000001.10:g.8415657T>G , CM000663.1:g.8415657T>G | GRCh37 |
| NC_000001.9:g.8338244T>G | NCBI36 |
| NG_047035.1:g.467095A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.2827A>C | ENSP00000515651.1:p.Thr943Pro | |
| ENST00000400908.7:c.4489A>C MANE Select | ENSP00000383700.2:p.Thr1497Pro | |
| ENST00000337907.7:c.4489A>C | ENSP00000338629.3:p.Thr1497Pro | |
| ENST00000377464.5:c.3685A>C | ENSP00000366684.1:p.Thr1229Pro | |
| ENST00000400907.6:c.1543A>C | ENSP00000383699.2:p.Thr515Pro | |
| ENST00000400908.6:c.4489A>C | ENSP00000383700.2:p.Thr1497Pro | |
| ENST00000476556.5:c.2827A>C | ENSP00000422246.1:p.Thr943Pro | |
| ENST00000505225.1:c.457A>C | ENSP00000423451.1:p.Thr153Pro | |
| NM_001042681.1:c.4489A>C | NP_001036146.1:p.Thr1497Pro | |
| NM_001042682.1:c.2827A>C | NP_001036147.1:p.Thr943Pro | |
| NM_012102.3:c.4489A>C | NP_036234.3:p.Thr1497Pro | |
| XM_005263464.1:c.4489A>C | XP_005263521.1:p.Thr1497Pro | |
| XM_005263466.1:c.3685A>C | XP_005263523.1:p.Thr1229Pro | |
| XM_006710653.1:c.4489A>C | XP_006710716.1:p.Thr1497Pro | |
| XM_011541510.1:c.4363A>C | XP_011539812.1:p.Thr1455Pro | |
| XM_005263464.2:c.4489A>C | XP_005263521.1:p.Thr1497Pro | |
| XM_011541510.2:c.4363A>C | XP_011539812.1:p.Thr1455Pro | |
| XM_017001358.1:c.4489A>C | XP_016856847.1:p.Thr1497Pro | |
| XM_017001359.1:c.4489A>C | XP_016856848.1:p.Thr1497Pro | |
| NM_001042681.2:c.4489A>C MANE Select | NP_001036146.1:p.Thr1497Pro | |
| NM_001042682.2:c.2827A>C | NP_001036147.1:p.Thr943Pro | |
| NM_012102.4:c.4489A>C | NP_036234.3:p.Thr1497Pro |