Linked Data
ClinVar Variation Id:
1342351
ClinVar RCV Id:
RCV001839102
dbSNP Id:
rs1317184946
gnomAD v2:
17-44116025-C-G
gnomAD v4:
17-46038659-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46038659C>G , CM000679.2:g.46038659C>G | GRCh38 |
| NC_000017.10:g.44116025C>G , CM000679.1:g.44116025C>G | GRCh37 |
| NC_000017.9:g.41471872C>G | NCBI36 |
| NG_032784.1:g.191716G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.2420G>C MANE Select | ENSP00000387393.3:p.Ser807Thr | |
| ENST00000572904.6:c.2420G>C | ENSP00000461484.1:p.Ser807Thr | |
| ENST00000573286.2:n.4103G>C | ||
| ENST00000574590.6:c.2420G>C | ENSP00000461812.2:p.Ser807Thr | |
| ENST00000575318.6:c.2231G>C | ENSP00000461299.1:p.Ser744Thr | |
| ENST00000576137.2:n.417G>C | ||
| ENST00000638275.1:c.2231G>C | ENSP00000492576.1:p.Ser744Thr | |
| ENST00000639150.1:c.1154G>C | ENSP00000491906.1:p.Ser385Thr | |
| ENST00000639467.1:c.83G>C | ENSP00000492741.1:p.Ser28Thr | |
| ENST00000639531.1:c.2231G>C | ENSP00000491765.1:p.Ser744Thr | |
| ENST00000639853.1:c.1402G>C | ||
| ENST00000640636.1:c.373G>C | ||
| ENST00000648792.1:c.2420G>C | ENSP00000497628.1:p.Ser807Thr | |
| ENST00000262419.10:c.2420G>C | ENSP00000262419.6:p.Ser807Thr | |
| ENST00000432791.5:c.2420G>C | ENSP00000387393.2:p.Ser807Thr | |
| ENST00000572218.5:n.6637G>C | ||
| ENST00000572679.1:n.552G>C | ||
| ENST00000572904.5:c.2420G>C | ENSP00000461484.1:p.Ser807Thr | |
| ENST00000573286.1:n.276G>C | ||
| ENST00000574590.5:c.2420G>C | ENSP00000461812.1:p.Ser807Thr | |
| ENST00000575318.5:c.2231G>C | ENSP00000461299.1:p.Ser744Thr | |
| ENST00000576137.1:n.59G>C | ||
| ENST00000576870.5:n.392G>C | ||
| NM_001193465.1:c.2420G>C | NP_001180394.1:p.Ser807Thr | |
| NM_001193466.1:c.2420G>C | NP_001180395.1:p.Ser807Thr | |
| NM_015443.3:c.2420G>C | NP_056258.1:p.Ser807Thr | |
| XM_006721823.1:c.2420G>C | XP_006721886.1:p.Ser807Thr | |
| XM_006721824.2:c.2420G>C | XP_006721887.1:p.Ser807Thr | |
| XM_011524628.1:c.2420G>C | XP_011522930.1:p.Ser807Thr | |
| XM_011524629.1:c.2318G>C | XP_011522931.1:p.Ser773Thr | |
| XM_011524630.1:c.2231G>C | XP_011522932.1:p.Ser744Thr | |
| XM_011524631.1:c.2231G>C | XP_011522933.1:p.Ser744Thr | |
| XM_011524632.1:c.1190G>C | XP_011522934.1:p.Ser397Thr | |
| XM_006721823.2:c.2420G>C | XP_006721886.1:p.Ser807Thr | |
| XM_006721824.4:c.2420G>C | XP_006721887.1:p.Ser807Thr | |
| XM_011524628.3:c.2420G>C | XP_011522930.1:p.Ser807Thr | |
| XM_011524629.3:c.2318G>C | XP_011522931.1:p.Ser773Thr | |
| XM_011524630.3:c.2231G>C | XP_011522932.1:p.Ser744Thr | |
| XM_011524631.3:c.2231G>C | XP_011522933.1:p.Ser744Thr | |
| XM_011524632.3:c.1190G>C | XP_011522934.1:p.Ser397Thr | |
| XM_017024488.2:c.2231G>C | XP_016879977.1:p.Ser744Thr | |
| XM_017024489.1:c.2318G>C | XP_016879978.1:p.Ser773Thr | |
| NM_001193466.2:c.2420G>C | NP_001180395.1:p.Ser807Thr | |
| NM_015443.4:c.2420G>C MANE Select | NP_056258.1:p.Ser807Thr | |
| NM_001193465.2:c.2420G>C | NP_001180394.1:p.Ser807Thr | |
| NM_001379198.1:c.2420G>C | NP_001366127.1:p.Ser807Thr |