Linked Data
ClinVar Variation Id:
402405
ClinVar RCV Id:
RCV000456059
dbSNP Id:
rs1805105
ExAC:
16:396264 A / G
gnomAD v2:
16-396264-A-G
gnomAD v3:
16-346264-A-G
gnomAD v4:
16-346264-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.346264A>G , CM000678.2:g.346264A>G | GRCh38 |
| NC_000016.9:g.396264A>G , CM000678.1:g.396264A>G | GRCh37 |
| NC_000016.8:g.336265A>G | NCBI36 |
| NG_012267.1:g.11201T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262320.8:c.762T>C MANE Select | ENSP00000262320.3:p.Asp254= | |
| ENST00000262320.7:c.762T>C | ENSP00000262320.3:p.Asp254= | |
| ENST00000354866.7:c.762T>C | ENSP00000346935.3:p.Asp254= | |
| ENST00000461023.5:n.59T>C | ||
| ENST00000481769.1:n.305+6105T>C | ||
| NM_003502.3:c.762T>C | NP_003493.1:p.Asp254= | |
| NM_181050.2:c.762T>C | NP_851393.1:p.Asp254= | |
| XM_011522682.1:c.909T>C | XP_011520984.1:p.Asp303= | |
| XM_011522683.1:c.909T>C | XP_011520985.1:p.Asp303= | |
| XM_011522684.1:c.762T>C | XP_011520986.1:p.Asp254= | |
| XM_011522685.1:c.62+8794T>C | XP_011520987.1:n.62+8794T>C | |
| XM_011522687.1:c.62+8794T>C | XP_011520989.1:n.62+8794T>C | |
| NR_134879.1:n.1151T>C | ||
| XM_011522682.2:c.909T>C | XP_011520984.1:p.Asp303= | |
| XM_011522683.2:c.909T>C | XP_011520985.1:p.Asp303= | |
| XM_011522684.2:c.762T>C | XP_011520986.1:p.Asp254= | |
| XM_017023743.1:c.909T>C | XP_016879232.1:p.Asp303= | |
| XM_017023744.1:c.909T>C | XP_016879233.1:p.Asp303= | |
| XM_017023747.1:c.909T>C | XP_016879236.1:p.Asp303= | |
| XM_017023748.1:c.909T>C | XP_016879237.1:p.Asp303= | |
| XR_001751996.1:n.1164T>C | ||
| NM_003502.4:c.762T>C MANE Select | NP_003493.1:p.Asp254= | |
| NM_181050.3:c.762T>C | NP_851393.1:p.Asp254= | |
| NR_134879.2:n.1198T>C |