Linked Data
ClinVar Variation Id:
950468
ClinVar RCV Id:
RCV001222184
dbSNP Id:
rs777045712
ExAC:
17:44109478 T / G
gnomAD v2:
17-44109478-T-G
gnomAD v4:
17-46032112-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46032112T>G , CM000679.2:g.46032112T>G | GRCh38 |
| NC_000017.10:g.44109478T>G , CM000679.1:g.44109478T>G | GRCh37 |
| NC_000017.9:g.41465325T>G | NCBI36 |
| NG_032784.1:g.198263A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.3025A>C MANE Select | ENSP00000387393.3:p.Thr1009Pro | |
| ENST00000572904.6:c.3025A>C | ENSP00000461484.1:p.Thr1009Pro | |
| ENST00000574590.6:c.3022A>C | ENSP00000461812.2:p.Thr1008Pro | |
| ENST00000575318.6:c.2833A>C | ENSP00000461299.1:p.Thr945Pro | |
| ENST00000638275.1:c.2833A>C | ENSP00000492576.1:p.Thr945Pro | |
| ENST00000639805.1:n.442A>C | ||
| ENST00000648792.1:c.2893A>C | ENSP00000497628.1:p.Thr965Pro | |
| ENST00000262419.10:c.3025A>C | ENSP00000262419.6:p.Thr1009Pro | |
| ENST00000432791.5:c.3022A>C | ENSP00000387393.2:p.Thr1008Pro | |
| ENST00000572218.5:n.7242A>C | ||
| ENST00000572904.5:c.3025A>C | ENSP00000461484.1:p.Thr1009Pro | |
| ENST00000574590.5:c.3025A>C | ENSP00000461812.1:p.Thr1009Pro | |
| ENST00000574963.1:n.455A>C | ||
| ENST00000575318.5:c.2833A>C | ENSP00000461299.1:p.Thr945Pro | |
| ENST00000576870.5:n.997A>C | ||
| NM_001193465.1:c.3022A>C | NP_001180394.1:p.Thr1008Pro | |
| NM_001193466.1:c.3025A>C | NP_001180395.1:p.Thr1009Pro | |
| NM_015443.3:c.3025A>C | NP_056258.1:p.Thr1009Pro | |
| XM_006721823.1:c.3025A>C | XP_006721886.1:p.Thr1009Pro | |
| XM_006721824.2:c.3025A>C | XP_006721887.1:p.Thr1009Pro | |
| XM_011524628.1:c.3022A>C | XP_011522930.1:p.Thr1008Pro | |
| XM_011524629.1:c.2923A>C | XP_011522931.1:p.Thr975Pro | |
| XM_011524630.1:c.2836A>C | XP_011522932.1:p.Thr946Pro | |
| XM_011524631.1:c.2833A>C | XP_011522933.1:p.Thr945Pro | |
| XM_011524632.1:c.1795A>C | XP_011522934.1:p.Thr599Pro | |
| XM_006721823.2:c.3025A>C | XP_006721886.1:p.Thr1009Pro | |
| XM_006721824.4:c.3025A>C | XP_006721887.1:p.Thr1009Pro | |
| XM_011524628.3:c.3022A>C | XP_011522930.1:p.Thr1008Pro | |
| XM_011524629.3:c.2923A>C | XP_011522931.1:p.Thr975Pro | |
| XM_011524630.3:c.2836A>C | XP_011522932.1:p.Thr946Pro | |
| XM_011524631.3:c.2833A>C | XP_011522933.1:p.Thr945Pro | |
| XM_011524632.3:c.1795A>C | XP_011522934.1:p.Thr599Pro | |
| XM_017024488.2:c.2833A>C | XP_016879977.1:p.Thr945Pro | |
| NM_001193466.2:c.3025A>C | NP_001180395.1:p.Thr1009Pro | |
| NM_015443.4:c.3025A>C MANE Select | NP_056258.1:p.Thr1009Pro | |
| NM_001193465.2:c.3022A>C | NP_001180394.1:p.Thr1008Pro | |
| NM_001379198.1:c.3025A>C | NP_001366127.1:p.Thr1009Pro |