Linked Data
ClinVar Variation Id:
2028321
ClinVar RCV Id:
RCV002863492
dbSNP Id:
rs769775818
ExAC:
5:13753501 A / G
gnomAD v2:
5-13753501-A-G
gnomAD v4:
5-13753392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753392A>G , CM000667.2:g.13753392A>G | GRCh38 |
| NC_000005.9:g.13753501A>G , CM000667.1:g.13753501A>G | GRCh37 |
| NC_000005.8:g.13806501A>G | NCBI36 |
| NG_013081.1:g.196089T>C | |
| NG_013081.2:g.196089T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10713T>C MANE Select | ENSP00000265104.4:p.Pro3571= | |
| ENST00000681290.1:c.10668T>C | ENSP00000505288.1:p.Pro3556= | |
| ENST00000265104.4:c.10713T>C | ENSP00000265104.4:p.Pro3571= | |
| NM_001369.2:c.10713T>C | NP_001360.1:p.Pro3571= | |
| XM_005248262.2:c.10668T>C | XP_005248319.1:p.Pro3556= | |
| XM_005248262.3:c.10821T>C | XP_005248319.2:p.Pro3607= | |
| XM_017009177.1:c.10821T>C | XP_016864666.1:p.Pro3607= | |
| XM_017009178.1:c.9726T>C | XP_016864667.1:p.Pro3242= | |
| XM_017009179.2:c.9726T>C | XP_016864668.1:p.Pro3242= | |
| XM_017009180.1:c.10821T>C | XP_016864669.1:p.Pro3607= | |
| XM_017009181.1:c.10821T>C | XP_016864670.1:p.Pro3607= | |
| XM_017009182.1:c.10821T>C | XP_016864671.1:p.Pro3607= | |
| XM_017009185.1:c.5910T>C | XP_016864674.1:p.Pro1970= | |
| XM_017009186.1:c.5463T>C | XP_016864675.1:p.Pro1821= | |
| XM_017009188.1:c.4800T>C | XP_016864677.1:p.Pro1600= | |
| XM_024454388.1:c.9726T>C | XP_024310156.1:p.Pro3242= | |
| XM_024454389.1:c.9315T>C | XP_024310157.1:p.Pro3105= | |
| NM_001369.3:c.10713T>C MANE Select | NP_001360.1:p.Pro3571= |