Linked Data
ClinVar Variation Id:
9074
ClinVar RCV Id:
RCV000009642
dbSNP Id:
rs121918365
gnomAD v2:
12-51386593-C-G
gnomAD v3:
12-50992810-C-G
gnomAD v4:
12-50992810-C-G
PubMed:
PMID:15459009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50992810C>G , CM000674.2:g.50992810C>G | GRCh38 |
| NC_000012.11:g.51386593C>G , CM000674.1:g.51386593C>G | GRCh37 |
| NC_000012.10:g.49672860C>G | NCBI36 |
| NG_021139.1:g.40466G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394904.9:c.1284G>C | ENSP00000378364.3:p.Glu428Asp | |
| ENST00000545993.7:c.1185G>C | ENSP00000442810.2:p.Glu395Asp | |
| ENST00000547688.7:c.1284G>C | ENSP00000449200.2:p.Glu428Asp | |
| ENST00000642227.1:c.*782G>C | ENSP00000494696.1:n.*782G>C | |
| ENST00000643123.1:n.249G>C | ||
| ENST00000643884.1:c.1233G>C | ENSP00000493633.1:p.Glu411Asp | |
| ENST00000644495.1:c.1197G>C | ENSP00000494107.1:p.Glu399Asp | |
| ENST00000646264.1:c.767G>C | ||
| ENST00000646740.1:c.*371G>C | ENSP00000494001.1:n.*371G>C | |
| ENST00000262051.11:c.1197G>C | ENSP00000262051.7:p.Glu399Asp | |
| ENST00000262052.9:c.1197G>C MANE Select | ENSP00000262052.5:p.Glu399Asp | |
| ENST00000394904.7:c.1284G>C | ENSP00000378364.3:p.Glu428Asp | |
| ENST00000541174.6:c.1197G>C | ENSP00000444542.2:p.Glu399Asp | |
| ENST00000545993.6:c.1185G>C | ENSP00000442810.2:p.Glu395Asp | |
| ENST00000546636.5:c.1197G>C | ENSP00000449008.1:p.Glu399Asp | |
| ENST00000546743.5:c.960G>C | ENSP00000446914.1:p.Glu320Asp | |
| ENST00000547198.5:c.1197G>C | ENSP00000446769.1:p.Glu399Asp | |
| ENST00000547688.5:c.1284G>C | ENSP00000449200.1:p.Glu428Asp | |
| ENST00000550782.5:n.669G>C | ||
| ENST00000551231.1:n.335G>C | ||
| NM_000617.2:c.1197G>C | NP_000608.1:p.Glu399Asp | |
| NM_001174125.1:c.1284G>C | NP_001167596.1:p.Glu428Asp | |
| NM_001174126.1:c.1197G>C | NP_001167597.1:p.Glu399Asp | |
| NM_001174127.1:c.1197G>C | NP_001167598.1:p.Glu399Asp | |
| NM_001174128.1:c.1197G>C | NP_001167599.1:p.Glu399Asp | |
| NM_001174129.1:c.1197G>C | NP_001167600.1:p.Glu399Asp | |
| NM_001174130.1:c.1185G>C | NP_001167601.1:p.Glu395Asp | |
| NR_033421.1:n.1262G>C | ||
| NR_033422.1:n.1337G>C | ||
| XM_005268911.2:c.1284G>C | XP_005268968.1:p.Glu428Asp | |
| XM_005268912.3:c.1185G>C | XP_005268969.1:p.Glu395Asp | |
| XM_005268913.2:c.1086G>C | XP_005268970.1:p.Glu362Asp | |
| XM_005268914.2:c.1086G>C | XP_005268971.1:p.Glu362Asp | |
| XM_011538404.1:c.1197G>C | XP_011536706.1:p.Glu399Asp | |
| XM_011538405.1:c.1197G>C | XP_011536707.1:p.Glu399Asp | |
| XM_011538406.1:c.960G>C | XP_011536708.1:p.Glu320Asp | |
| XR_429104.1:n.1394G>C | ||
| XR_944555.1:n.1394G>C | ||
| XM_005268911.3:c.1284G>C | XP_005268968.1:p.Glu428Asp | |
| XM_005268912.5:c.1185G>C | XP_005268969.1:p.Glu395Asp | |
| XM_011538404.3:c.1197G>C | XP_011536706.1:p.Glu399Asp | |
| XM_011538405.3:c.1197G>C | XP_011536707.1:p.Glu399Asp | |
| XM_017019355.2:c.1197G>C | XP_016874844.1:p.Glu399Asp | |
| XM_017019356.2:c.960G>C | XP_016874845.1:p.Glu320Asp | |
| XR_001748720.1:n.1394G>C | ||
| XR_001748721.2:n.1312G>C | ||
| XR_001748722.2:n.1320G>C | ||
| XR_001748723.2:n.1320G>C | ||
| NM_000617.3:c.1197G>C MANE Select | NP_000608.1:p.Glu399Asp | |
| NM_001174125.2:c.1284G>C | NP_001167596.1:p.Glu428Asp | |
| NM_001174128.2:c.1197G>C | NP_001167599.1:p.Glu399Asp | |
| NM_001174130.2:c.1185G>C | NP_001167601.1:p.Glu395Asp | |
| NR_033421.2:n.1230G>C | ||
| NR_033422.2:n.1305G>C | ||
| NM_001174126.2:c.1197G>C | NP_001167597.1:p.Glu399Asp | |
| NM_001174127.2:c.1197G>C | NP_001167598.1:p.Glu399Asp | |
| NM_001379446.1:c.1284G>C | NP_001366375.1:p.Glu428Asp | |
| NM_001379447.1:c.1197G>C | NP_001366376.1:p.Glu399Asp | |
| NM_001379448.1:c.1185G>C | NP_001366377.1:p.Glu395Asp | |
| NM_001379455.1:c.1284G>C | NP_001366384.1:p.Glu428Asp | |
| NR_166668.1:n.1310G>C | ||
| NR_166669.1:n.1305G>C | ||
| NR_166670.1:n.1310G>C |