Linked Data
ClinVar Variation Id:
351041
ClinVar RCV Id:
RCV000316130
dbSNP Id:
rs774653078
ExAC:
5:13752297 T / C
gnomAD v2:
5-13752297-T-C
gnomAD v4:
5-13752188-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752188T>C , CM000667.2:g.13752188T>C | GRCh38 |
| NC_000005.9:g.13752297T>C , CM000667.1:g.13752297T>C | GRCh37 |
| NC_000005.8:g.13805297T>C | NCBI36 |
| NG_013081.1:g.197293A>G | |
| NG_013081.2:g.197293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10974A>G MANE Select | ENSP00000265104.4:p.Pro3658= | |
| ENST00000681290.1:c.10929A>G | ENSP00000505288.1:p.Pro3643= | |
| ENST00000265104.4:c.10974A>G | ENSP00000265104.4:p.Pro3658= | |
| NM_001369.2:c.10974A>G | NP_001360.1:p.Pro3658= | |
| XM_005248262.2:c.10929A>G | XP_005248319.1:p.Pro3643= | |
| XM_005248262.3:c.11082A>G | XP_005248319.2:p.Pro3694= | |
| XM_017009177.1:c.11082A>G | XP_016864666.1:p.Pro3694= | |
| XM_017009178.1:c.9987A>G | XP_016864667.1:p.Pro3329= | |
| XM_017009179.2:c.9987A>G | XP_016864668.1:p.Pro3329= | |
| XM_017009180.1:c.11082A>G | XP_016864669.1:p.Pro3694= | |
| XM_017009181.1:c.11082A>G | XP_016864670.1:p.Pro3694= | |
| XM_017009182.1:c.11082A>G | XP_016864671.1:p.Pro3694= | |
| XM_017009185.1:c.6171A>G | XP_016864674.1:p.Pro2057= | |
| XM_017009186.1:c.5724A>G | XP_016864675.1:p.Pro1908= | |
| XM_017009188.1:c.5061A>G | XP_016864677.1:p.Pro1687= | |
| XM_024454388.1:c.9987A>G | XP_024310156.1:p.Pro3329= | |
| XM_024454389.1:c.9576A>G | XP_024310157.1:p.Pro3192= | |
| NM_001369.3:c.10974A>G MANE Select | NP_001360.1:p.Pro3658= |