Linked Data
ClinVar Variation Id:
508289
ClinVar RCV Id:
RCV001704738
dbSNP Id:
rs578082530
ExAC:
19:41112365 G / C
gnomAD v2:
19-41112365-G-C
gnomAD v3:
19-40606459-G-C
gnomAD v4:
19-40606459-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40606459G>C , CM000681.2:g.40606459G>C | GRCh38 |
| NC_000019.9:g.41112365G>C , CM000681.1:g.41112365G>C | GRCh37 |
| NC_000019.8:g.45804205G>C | NCBI36 |
| NG_021201.1:g.18294G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.924G>C MANE Select | ENSP00000380031.5:p.Thr308= | |
| ENST00000204005.13:c.1014G>C | ENSP00000204005.10:p.Thr338= | |
| ENST00000308370.11:c.1125G>C | ENSP00000311905.8:p.Thr375= | |
| ENST00000396819.7:c.924G>C | ENSP00000380031.4:p.Thr308= | |
| ENST00000598717.5:n.429-4915G>C | ||
| NM_001042544.1:c.1125G>C | NP_001036009.1:p.Thr375= | |
| NM_001042545.1:c.924G>C | NP_001036010.1:p.Thr308= | |
| NM_003573.2:c.1014G>C | NP_003564.2:p.Thr338= | |
| XM_011527376.1:c.1125G>C | XP_011525678.1:p.Thr375= | |
| XM_011527377.1:c.1158G>C | XP_011525679.1:p.Thr386= | |
| XM_011527378.1:c.1158G>C | XP_011525680.1:p.Thr386= | |
| XM_011527379.1:c.924G>C | XP_011525681.1:p.Thr308= | |
| XM_011527380.1:c.1158G>C | XP_011525682.1:p.Thr386= | |
| XM_011527381.1:c.1158G>C | XP_011525683.1:p.Thr386= | |
| XM_011527382.1:c.1158G>C | XP_011525684.1:p.Thr386= | |
| XM_011527383.1:c.1158G>C | XP_011525685.1:p.Thr386= | |
| XM_011527384.1:c.1158G>C | XP_011525686.1:p.Thr386= | |
| XM_011527385.1:c.1158G>C | XP_011525687.1:p.Thr386= | |
| XM_011527386.1:c.1158G>C | XP_011525688.1:p.Thr386= | |
| XM_011527387.1:c.516G>C | XP_011525689.1:p.Thr172= | |
| XM_011527376.2:c.1125G>C | XP_011525678.1:p.Thr375= | |
| XM_011527377.2:c.1158G>C | XP_011525679.1:p.Thr386= | |
| XM_011527378.2:c.1158G>C | XP_011525680.1:p.Thr386= | |
| XM_011527380.2:c.1158G>C | XP_011525682.1:p.Thr386= | |
| XM_011527381.2:c.1158G>C | XP_011525683.1:p.Thr386= | |
| XM_011527382.2:c.1158G>C | XP_011525684.1:p.Thr386= | |
| XM_011527383.2:c.1158G>C | XP_011525685.1:p.Thr386= | |
| XM_011527384.2:c.1158G>C | XP_011525686.1:p.Thr386= | |
| XM_011527385.2:c.1158G>C | XP_011525687.1:p.Thr386= | |
| XM_011527386.2:c.1158G>C | XP_011525688.1:p.Thr386= | |
| XM_017027352.1:c.1158G>C | XP_016882841.1:p.Thr386= | |
| XM_017027353.1:c.1158G>C | XP_016882842.1:p.Thr386= | |
| XM_017027354.1:c.1158G>C | XP_016882843.1:p.Thr386= | |
| NM_001042545.2:c.924G>C MANE Select | NP_001036010.1:p.Thr308= |