Linked Data
ClinVar Variation Id:
279837
dbSNP Id:
rs182345541
ExAC:
9:139089445 C / G
gnomAD v2:
9-139089445-C-G
gnomAD v3:
9-136197599-C-G
gnomAD v4:
9-136197599-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136197599C>G , CM000671.2:g.136197599C>G | GRCh38 |
| NC_000009.11:g.139089445C>G , CM000671.1:g.139089445C>G | GRCh37 |
| NC_000009.10:g.138229266C>G | NCBI36 |
| NG_008097.1:g.12511G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371746.9:c.935G>C | ENSP00000360811.3:p.Arg312Pro | |
| ENST00000371748.10:c.920G>C MANE Select | ENSP00000360813.4:p.Arg307Pro | |
| ENST00000645419.1:n.1745G>C | ||
| ENST00000371746.7:c.935G>C | ENSP00000360811.3:p.Arg312Pro | |
| ENST00000371748.9:c.920G>C | ENSP00000360813.4:p.Arg307Pro | |
| ENST00000619587.1:c.887G>C | ENSP00000483080.1:p.Arg296Pro | |
| NM_014564.3:c.935G>C | NP_055379.1:p.Arg312Pro | |
| NM_178138.4:c.920G>C | NP_835258.1:p.Arg307Pro | |
| XM_005263410.1:c.887G>C | XP_005263467.1:p.Arg296Pro | |
| NM_001363746.1:c.887G>C | NP_001350675.1:p.Arg296Pro | |
| NM_014564.4:c.935G>C | NP_055379.1:p.Arg312Pro | |
| NM_178138.5:c.920G>C | NP_835258.1:p.Arg307Pro | |
| XM_017015168.1:c.848G>C | XP_016870657.1:p.Arg283Pro | |
| NM_178138.6:c.920G>C MANE Select | NP_835258.1:p.Arg307Pro | |
| NM_014564.5:c.935G>C | NP_055379.1:p.Arg312Pro |