Linked Data
ClinVar Variation Id:
573645
ClinVar RCV Id:
RCV000695367
dbSNP Id:
rs1268685956
gnomAD v2:
12-56101300-A-G
gnomAD v4:
12-55707516-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55707516A>G , CM000674.2:g.55707516A>G | GRCh38 |
| NC_000012.11:g.56101300A>G , CM000674.1:g.56101300A>G | GRCh37 |
| NC_000012.10:g.54387567A>G | NCBI36 |
| NG_012343.1:g.9790T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.65-4338T>C | ENSP00000452467.1:n.65-4338T>C | |
| ENST00000557257.2:c.-61+4547T>C | ENSP00000450578.2:n.-61+4547T>C | |
| ENST00000557555.3:c.167T>C | ENSP00000451039.3:p.Val56Ala | |
| ENST00000686981.1:c.65-4338T>C | ENSP00000510795.1:n.65-4338T>C | |
| ENST00000691052.1:c.167T>C | ENSP00000508886.1:p.Val56Ala | |
| ENST00000691973.1:c.167T>C | ENSP00000509141.1:p.Val56Ala | |
| ENST00000257879.11:c.167T>C MANE Select | ENSP00000257879.7:p.Val56Ala | |
| ENST00000553804.6:c.167T>C | ENSP00000452120.1:p.Val56Ala | |
| ENST00000257879.10:c.167T>C | ENSP00000257879.6:p.Val56Ala | |
| ENST00000347027.10:c.167T>C | ENSP00000343009.6:p.Val56Ala | |
| ENST00000452168.6:c.85+4547T>C | ENSP00000393844.2:n.85+4547T>C | |
| ENST00000553276.1:n.142+4547T>C | ||
| ENST00000553737.5:n.191+4547T>C | ||
| ENST00000553804.5:c.167T>C | ENSP00000452120.1:p.Val56Ala | |
| ENST00000553893.5:c.65-4338T>C | ENSP00000452467.1:n.65-4338T>C | |
| ENST00000554359.1:n.198T>C | ||
| ENST00000554724.5:c.24-4338T>C | ||
| ENST00000555687.5:c.86-4338T>C | ENSP00000451311.1:n.86-4338T>C | |
| ENST00000555728.5:c.167T>C | ENSP00000452387.1:p.Val56Ala | |
| ENST00000555809.1:c.65-4338T>C | ENSP00000450798.1:n.65-4338T>C | |
| ENST00000556273.5:c.64+4547T>C | ENSP00000450679.1:n.64+4547T>C | |
| ENST00000556371.1:n.121+4547T>C | ||
| ENST00000557257.1:c.-61+4547T>C | ENSP00000450578.1:n.-61+4547T>C | |
| NM_001144996.1:c.167T>C | NP_001138468.1:p.Val56Ala | |
| NM_001144997.1:c.85+4547T>C | NP_001138469.1:n.85+4547T>C | |
| NM_002206.2:c.167T>C | NP_002197.2:p.Val56Ala | |
| XM_005268839.1:c.167T>C | XP_005268896.1:p.Val56Ala | |
| XM_005268840.1:c.167T>C | XP_005268897.1:p.Val56Ala | |
| XM_005268841.1:c.167T>C | XP_005268898.1:p.Val56Ala | |
| XM_005268842.1:c.167T>C | XP_005268899.1:p.Val56Ala | |
| XM_005268844.1:c.-133-4338T>C | XP_005268901.1:n.-133-4338T>C | |
| XM_005268845.1:c.-133-4338T>C | XP_005268902.1:n.-133-4338T>C | |
| XM_005268846.1:c.-133-4338T>C | XP_005268903.1:n.-133-4338T>C | |
| XM_005268847.1:c.-61+4547T>C | XP_005268904.1:n.-61+4547T>C | |
| XM_005268848.1:c.-61+4547T>C | XP_005268905.1:n.-61+4547T>C | |
| XM_005268849.1:c.-61+4547T>C | XP_005268906.1:n.-61+4547T>C | |
| XM_005268850.1:c.-61+4547T>C | XP_005268907.1:n.-61+4547T>C | |
| XM_011538286.1:c.-133-4338T>C | XP_011536588.1:n.-133-4338T>C | |
| XM_011538287.1:c.167T>C | XP_011536589.1:p.Val56Ala | |
| XM_005268839.2:c.167T>C | XP_005268896.1:p.Val56Ala | |
| XM_005268840.2:c.167T>C | XP_005268897.1:p.Val56Ala | |
| XM_005268841.2:c.167T>C | XP_005268898.1:p.Val56Ala | |
| XM_005268842.2:c.167T>C | XP_005268899.1:p.Val56Ala | |
| NM_001144996.2:c.167T>C | NP_001138468.1:p.Val56Ala | |
| NM_001367993.1:c.-133-4338T>C | NP_001354922.1:n.-133-4338T>C | |
| NM_001367994.1:c.-1006T>C | NP_001354923.1:n.-1006T>C | |
| NM_001374465.1:c.167T>C | NP_001361394.1:p.Val56Ala | |
| NM_002206.3:c.167T>C MANE Select | NP_002197.2:p.Val56Ala |