Linked Data
ClinVar Variation Id:
167632
ClinVar RCV Id:
RCV000153880
RCV000279576
RCV000378694
RCV000619036
RCV000771788
RCV000780696
RCV002516099
RCV003952755
dbSNP Id:
rs201371633
ExAC:
1:237993877 G / C
gnomAD v2:
1-237993877-G-C
gnomAD v3:
1-237830577-G-C
gnomAD v4:
1-237830577-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237830577G>C , CM000663.2:g.237830577G>C | GRCh38 |
| NC_000001.10:g.237993877G>C , CM000663.1:g.237993877G>C | GRCh37 |
| NC_000001.9:g.236060500G>C | NCBI36 |
| NG_008799.2:g.793176G>C | |
| NG_008799.3:g.793394G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609119.2:c.*5795G>C | ENSP00000499659.2:n.*5795G>C | |
| ENST00000659194.3:c.14685G>C | ENSP00000499653.3:p.Val4895= | |
| ENST00000660292.2:c.14724G>C | ENSP00000499787.2:p.Val4908= | |
| ENST00000659194.2:c.6874G>C | ||
| ENST00000366574.7:c.14703G>C MANE Select | ENSP00000355533.2:p.Val4901= | |
| ENST00000360064.7:c.14652G>C | ENSP00000353174.7:p.Val4884= | |
| ENST00000366574.6:c.14703G>C | ENSP00000355533.2:p.Val4901= | |
| ENST00000462585.1:n.546G>C | ||
| ENST00000608590.5:n.1167-937G>C | ||
| NM_001035.2:c.14703G>C | NP_001026.2:p.Val4901= | |
| XM_006711802.2:c.14757G>C | XP_006711865.1:p.Val4919= | |
| XM_006711803.2:c.14754G>C | XP_006711866.1:p.Val4918= | |
| XM_006711804.2:c.14733G>C | XP_006711867.1:p.Val4911= | |
| XM_006711805.2:c.14727G>C | XP_006711868.1:p.Val4909= | |
| XM_006711806.2:c.14721G>C | XP_006711869.1:p.Val4907= | |
| XM_006711807.2:c.14697G>C | XP_006711870.1:p.Val4899= | |
| XM_006711808.2:c.14520G>C | XP_006711871.1:p.Val4840= | |
| XM_006711810.2:c.14664G>C | XP_006711873.1:p.Val4888= | |
| XM_006711802.3:c.14757G>C | XP_006711865.1:p.Val4919= | |
| XM_006711803.3:c.14754G>C | XP_006711866.1:p.Val4918= | |
| XM_006711804.3:c.14733G>C | XP_006711867.1:p.Val4911= | |
| XM_006711805.3:c.14727G>C | XP_006711868.1:p.Val4909= | |
| XM_006711806.3:c.14721G>C | XP_006711869.1:p.Val4907= | |
| XM_006711807.3:c.14697G>C | XP_006711870.1:p.Val4899= | |
| XM_006711808.3:c.14520G>C | XP_006711871.1:p.Val4840= | |
| XM_006711810.3:c.14664G>C | XP_006711873.1:p.Val4888= | |
| XM_017002028.1:c.14736G>C | XP_016857517.1:p.Val4912= | |
| NM_001035.3:c.14703G>C MANE Select | NP_001026.2:p.Val4901= |