Linked Data
ClinVar Variation Id:
6621
ClinVar RCV Id:
RCV000007000
dbSNP Id:
rs1805076
ExAC:
11:111635566 C / T
gnomAD v2:
11-111635566-C-T
gnomAD v3:
11-111764842-C-T
gnomAD v4:
11-111764842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111764842C>T , CM000673.2:g.111764842C>T | GRCh38 |
| NC_000011.9:g.111635566C>T , CM000673.1:g.111635566C>T | GRCh37 |
| NC_000011.8:g.111140776C>T | NCBI36 |
| NG_012117.1:g.6604G>A | |
| NG_012117.2:g.6604G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527614.6:c.269G>A MANE Select | ENSP00000437193.1:p.Gly90Asp | |
| ENST00000311129.9:c.269G>A | ENSP00000311344.5:p.Gly90Asp | |
| ENST00000341980.10:c.269G>A | ENSP00000343317.6:p.Gly90Asp | |
| ENST00000393055.6:c.269G>A | ENSP00000376775.2:p.Gly90Asp | |
| ENST00000426998.6:c.114+1406G>A | ENSP00000410671.2:n.114+1406G>A | |
| ENST00000527614.5:c.269G>A | ENSP00000437193.1:p.Gly90Asp | |
| ENST00000531373.1:c.224G>A | ENSP00000434705.1:p.Gly75Asp | |
| ENST00000534500.5:c.205+452G>A | ENSP00000432666.1:n.205+452G>A | |
| ENST00000534521.5:c.269G>A | ENSP00000436626.1:p.Gly90Asp | |
| NM_001177562.1:c.269G>A | NP_001171033.1:p.Gly90Asp | |
| NM_001177563.1:c.269G>A | NP_001171034.1:p.Gly90Asp | |
| NM_002716.4:c.269G>A | NP_002707.3:p.Gly90Asp | |
| NM_181699.2:c.269G>A | NP_859050.1:p.Gly90Asp | |
| NM_181700.1:c.114+1406G>A | NP_859051.1:n.114+1406G>A | |
| XM_006718872.2:c.269G>A | XP_006718935.2:p.Gly90Asp | |
| XM_011542891.1:c.269G>A | XP_011541193.1:p.Gly90Asp | |
| XM_011542892.1:c.269G>A | XP_011541194.1:p.Gly90Asp | |
| XM_011542893.1:c.269G>A | XP_011541195.1:p.Gly90Asp | |
| XR_947857.1:n.297G>A | ||
| XM_017017960.2:c.269G>A | XP_016873449.1:p.Gly90Asp | |
| XM_017017961.1:c.269G>A | XP_016873450.1:p.Gly90Asp | |
| XM_024448598.1:c.269G>A | XP_024304366.1:p.Gly90Asp | |
| XM_024448599.1:c.269G>A | XP_024304367.1:p.Gly90Asp | |
| XM_024448600.1:c.269G>A | XP_024304368.1:p.Gly90Asp | |
| NM_001177562.2:c.269G>A | NP_001171033.1:p.Gly90Asp | |
| NM_001177563.2:c.269G>A | NP_001171034.1:p.Gly90Asp | |
| NM_002716.5:c.269G>A MANE Select | NP_002707.3:p.Gly90Asp | |
| NM_181699.3:c.269G>A | NP_859050.1:p.Gly90Asp | |
| NM_181700.2:c.114+1406G>A | NP_859051.1:n.114+1406G>A |