Linked Data
ClinVar Variation Id:
347225
dbSNP Id:
rs200394315
ExAC:
4:110834538 G / C
gnomAD v2:
4-110834538-G-C
gnomAD v3:
4-109913382-G-C
gnomAD v4:
4-109913382-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109913382G>C , CM000666.2:g.109913382G>C | GRCh38 |
| NC_000004.11:g.110834538G>C , CM000666.1:g.110834538G>C | GRCh37 |
| NC_000004.10:g.111053987G>C | NCBI36 |
| NG_011441.1:g.5499G>C | |
| NG_011441.2:g.5499G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265171.10:c.47G>C MANE Select | ENSP00000265171.5:p.Ser16Thr | |
| ENST00000652245.1:c.47G>C | ENSP00000498337.1:p.Ser16Thr | |
| ENST00000265171.9:c.47G>C | ENSP00000265171.5:p.Ser16Thr | |
| ENST00000503392.1:c.47G>C | ENSP00000421384.1:p.Ser16Thr | |
| ENST00000509793.5:c.47G>C | ENSP00000424316.1:p.Ser16Thr | |
| NM_001178130.1:c.47G>C | NP_001171601.1:p.Ser16Thr | |
| NM_001178131.1:c.47G>C | NP_001171602.1:p.Ser16Thr | |
| NM_001963.4:c.47G>C | NP_001954.2:p.Ser16Thr | |
| XM_005262796.2:c.47G>C | XP_005262853.1:p.Ser16Thr | |
| XM_005262797.2:c.47G>C | XP_005262854.1:p.Ser16Thr | |
| XM_005262798.2:c.47G>C | XP_005262855.1:p.Ser16Thr | |
| XM_005262800.2:c.47G>C | XP_005262857.1:p.Ser16Thr | |
| XM_005262801.2:c.47G>C | XP_005262858.1:p.Ser16Thr | |
| XM_005262802.2:c.47G>C | XP_005262859.1:p.Ser16Thr | |
| XM_006714124.2:c.47G>C | XP_006714187.1:p.Ser16Thr | |
| XM_011531707.1:c.-204G>C | XP_011530009.1:n.-204G>C | |
| XM_011531708.1:c.47G>C | XP_011530010.1:p.Ser16Thr | |
| XM_011531709.1:c.47G>C | XP_011530011.1:p.Ser16Thr | |
| XR_427532.2:n.500G>C | ||
| XR_938699.1:n.500G>C | ||
| NM_001178130.2:c.47G>C | NP_001171601.1:p.Ser16Thr | |
| NM_001178131.2:c.47G>C | NP_001171602.1:p.Ser16Thr | |
| NM_001357021.1:c.47G>C | NP_001343950.1:p.Ser16Thr | |
| NM_001963.5:c.47G>C | NP_001954.2:p.Ser16Thr | |
| XM_017007845.1:c.47G>C | XP_016863334.1:p.Ser16Thr | |
| XM_017007846.1:c.47G>C | XP_016863335.1:p.Ser16Thr | |
| XM_017007847.1:c.47G>C | XP_016863336.1:p.Ser16Thr | |
| XM_017007848.1:c.47G>C | XP_016863337.1:p.Ser16Thr | |
| XM_017007849.1:c.47G>C | XP_016863338.1:p.Ser16Thr | |
| XM_017007850.1:c.47G>C | XP_016863339.1:p.Ser16Thr | |
| XM_017007851.1:c.47G>C | XP_016863340.1:p.Ser16Thr | |
| XM_017007853.1:c.47G>C | XP_016863342.1:p.Ser16Thr | |
| XM_017007854.1:c.47G>C | XP_016863343.1:p.Ser16Thr | |
| XM_017007855.1:c.47G>C | XP_016863344.1:p.Ser16Thr | |
| XR_001741156.1:n.500G>C | ||
| XR_001741157.1:n.500G>C | ||
| NM_001178130.3:c.47G>C | NP_001171601.1:p.Ser16Thr | |
| NM_001178131.3:c.47G>C | NP_001171602.1:p.Ser16Thr | |
| NM_001357021.2:c.47G>C | NP_001343950.1:p.Ser16Thr | |
| NM_001963.6:c.47G>C MANE Select | NP_001954.2:p.Ser16Thr |