Linked Data
ClinVar Variation Id:
305908
dbSNP Id:
rs200821952
ExAC:
11:70803609 T / C
gnomAD v2:
11-70803609-T-C
gnomAD v3:
11-71092563-T-C
gnomAD v4:
11-71092563-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71092563T>C , CM000673.2:g.71092563T>C | GRCh38 |
| NC_000011.9:g.70803609T>C , CM000673.1:g.70803609T>C | GRCh37 |
| NC_000011.8:g.70481257T>C | NCBI36 |
| NG_042866.1:g.137234A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601538.6:c.771A>G MANE Select | ENSP00000469689.2:p.Pro257= | |
| ENST00000458632.2:c.179A>G | ||
| ENST00000601538.5:c.771A>G | ENSP00000469689.2:p.Pro257= | |
| ENST00000608988.5:c.*334A>G | ENSP00000476264.2:n.*334A>G | |
| NM_012309.4:c.771A>G | NP_036441.2:p.Pro257= | |
| XM_005277930.2:c.771A>G | XP_005277987.1:p.Pro257= | |
| XM_006718478.2:c.771A>G | XP_006718541.1:p.Pro257= | |
| XM_011544854.1:c.771A>G | XP_011543156.1:p.Pro257= | |
| XM_011544855.1:c.771A>G | XP_011543157.1:p.Pro257= | |
| XM_011544856.1:c.771A>G | XP_011543158.1:p.Pro257= | |
| XM_011544857.1:c.771A>G | XP_011543159.1:p.Pro257= | |
| XM_011544858.1:c.771A>G | XP_011543160.1:p.Pro257= | |
| XM_017017387.1:c.771A>G | XP_016872876.1:p.Pro257= | |
| XM_017017388.1:c.771A>G | XP_016872877.1:p.Pro257= | |
| XM_017017389.1:c.771A>G | XP_016872878.1:p.Pro257= | |
| NM_012309.5:c.771A>G MANE Select | NP_036441.2:p.Pro257= |