Linked Data
ClinVar Variation Id:
659790
ClinVar RCV Id:
RCV000816845
dbSNP Id:
rs749241540
ExAC:
17:44108915 G / A
gnomAD v2:
17-44108915-G-A
gnomAD v3:
17-46031549-G-A
gnomAD v4:
17-46031549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46031549G>A , CM000679.2:g.46031549G>A | GRCh38 |
| NC_000017.10:g.44108915G>A , CM000679.1:g.44108915G>A | GRCh37 |
| NC_000017.9:g.41464762G>A | NCBI36 |
| NG_032784.1:g.198826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.3245C>T MANE Select | ENSP00000387393.3:p.Ser1082Leu | |
| ENST00000572904.6:c.3245C>T | ENSP00000461484.1:p.Ser1082Leu | |
| ENST00000574590.6:c.3242C>T | ENSP00000461812.2:p.Ser1081Leu | |
| ENST00000575318.6:c.3053C>T | ENSP00000461299.1:p.Ser1018Leu | |
| ENST00000638275.1:c.3053C>T | ENSP00000492576.1:p.Ser1018Leu | |
| ENST00000648792.1:c.3113C>T | ENSP00000497628.1:p.Ser1038Leu | |
| ENST00000262419.10:c.3245C>T | ENSP00000262419.6:p.Ser1082Leu | |
| ENST00000432791.5:c.3242C>T | ENSP00000387393.2:p.Ser1081Leu | |
| ENST00000572218.5:n.7462C>T | ||
| ENST00000572904.5:c.3245C>T | ENSP00000461484.1:p.Ser1082Leu | |
| ENST00000574590.5:c.3245C>T | ENSP00000461812.1:p.Ser1082Leu | |
| ENST00000574963.1:n.1018C>T | ||
| ENST00000575318.5:c.3053C>T | ENSP00000461299.1:p.Ser1018Leu | |
| ENST00000576870.5:n.1217C>T | ||
| NM_001193465.1:c.3242C>T | NP_001180394.1:p.Ser1081Leu | |
| NM_001193466.1:c.3245C>T | NP_001180395.1:p.Ser1082Leu | |
| NM_015443.3:c.3245C>T | NP_056258.1:p.Ser1082Leu | |
| XM_006721823.1:c.3245C>T | XP_006721886.1:p.Ser1082Leu | |
| XM_006721824.2:c.3245C>T | XP_006721887.1:p.Ser1082Leu | |
| XM_011524628.1:c.3242C>T | XP_011522930.1:p.Ser1081Leu | |
| XM_011524629.1:c.3143C>T | XP_011522931.1:p.Ser1048Leu | |
| XM_011524630.1:c.3056C>T | XP_011522932.1:p.Ser1019Leu | |
| XM_011524631.1:c.3053C>T | XP_011522933.1:p.Ser1018Leu | |
| XM_011524632.1:c.2015C>T | XP_011522934.1:p.Ser672Leu | |
| XM_006721823.2:c.3245C>T | XP_006721886.1:p.Ser1082Leu | |
| XM_006721824.4:c.3245C>T | XP_006721887.1:p.Ser1082Leu | |
| XM_011524628.3:c.3242C>T | XP_011522930.1:p.Ser1081Leu | |
| XM_011524629.3:c.3143C>T | XP_011522931.1:p.Ser1048Leu | |
| XM_011524630.3:c.3056C>T | XP_011522932.1:p.Ser1019Leu | |
| XM_011524631.3:c.3053C>T | XP_011522933.1:p.Ser1018Leu | |
| XM_011524632.3:c.2015C>T | XP_011522934.1:p.Ser672Leu | |
| XM_017024488.2:c.3053C>T | XP_016879977.1:p.Ser1018Leu | |
| NM_001193466.2:c.3245C>T | NP_001180395.1:p.Ser1082Leu | |
| NM_015443.4:c.3245C>T MANE Select | NP_056258.1:p.Ser1082Leu | |
| NM_001193465.2:c.3242C>T | NP_001180394.1:p.Ser1081Leu | |
| NM_001379198.1:c.3245C>T | NP_001366127.1:p.Ser1082Leu |