Linked Data
dbSNP Id:
rs1259933030
gnomAD v2:
2-238280549-T-G
gnomAD v3:
2-237371906-T-G
gnomAD v4:
2-237371906-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237371906T>G , CM000664.2:g.237371906T>G | GRCh38 |
| NC_000002.11:g.238280549T>G , CM000664.1:g.238280549T>G | GRCh37 |
| NC_000002.10:g.237945288T>G | NCBI36 |
| NG_008676.1:g.47302A>C , LRG_473:g.47302A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.3493A>C | ENSP00000315873.4:p.Arg1165= | |
| ENST00000295550.9:c.4111A>C MANE Select | ENSP00000295550.4:p.Arg1371= | |
| ENST00000295550.8:c.4111A>C | ENSP00000295550.4:p.Arg1371= | |
| ENST00000347401.7:c.2290A>C | ENSP00000315609.4:p.Arg764= | |
| ENST00000353578.8:c.3493A>C | ENSP00000315873.4:p.Arg1165= | |
| ENST00000392003.6:c.2890A>C | ENSP00000375860.2:p.Arg964= | |
| ENST00000392004.7:c.3493A>C | ENSP00000375861.3:p.Arg1165= | |
| ENST00000409809.5:c.3493A>C | ENSP00000386844.1:p.Arg1165= | |
| ENST00000472056.5:c.2290A>C | ENSP00000418285.1:p.Arg764= | |
| NM_004369.3:c.4111A>C , LRG_473t1:c.4111A>C | NP_004360.2:p.Arg1371= | |
| NM_057164.4:c.2890A>C | NP_476505.3:p.Arg964= | |
| NM_057165.4:c.3493A>C | NP_476506.3:p.Arg1165= | |
| NM_057166.4:c.2290A>C | NP_476507.3:p.Arg764= | |
| NM_057167.3:c.3493A>C | NP_476508.2:p.Arg1165= | |
| XM_005246065.1:c.3511A>C | XP_005246122.1:p.Arg1171= | |
| XM_005246066.1:c.2890A>C | XP_005246123.1:p.Arg964= | |
| XM_006712253.1:c.4111A>C | XP_006712316.1:p.Arg1371= | |
| XM_011510574.1:c.4111A>C | XP_011508876.1:p.Arg1371= | |
| XM_011510575.1:c.1705A>C | XP_011508877.1:p.Arg569= | |
| XM_017003304.1:c.1705A>C | XP_016858793.1:p.Arg569= | |
| XM_024452684.1:c.2890A>C | XP_024308452.1:p.Arg964= | |
| NM_004369.4:c.4111A>C MANE Select | NP_004360.2:p.Arg1371= | |
| NM_057164.5:c.2890A>C | NP_476505.3:p.Arg964= | |
| NM_057165.5:c.3493A>C | NP_476506.3:p.Arg1165= | |
| NM_057166.5:c.2290A>C | NP_476507.3:p.Arg764= | |
| NM_057167.4:c.3493A>C | NP_476508.2:p.Arg1165= |