Linked Data
ClinVar Variation Id:
98416
ClinVar RCV Id:
RCV000084707
dbSNP Id:
rs367543229
ExAC:
11:18762297 C / T
gnomAD v2:
11-18762297-C-T
gnomAD v3:
11-18740750-C-T
gnomAD v4:
11-18740750-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18740750C>T , CM000673.2:g.18740750C>T | GRCh38 |
| NC_000011.9:g.18762297C>T , CM000673.1:g.18762297C>T | GRCh37 |
| NC_000011.8:g.18718873C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358540.7:c.768G>A MANE Select | ENSP00000351342.2:p.Pro256= | |
| ENST00000358540.6:c.768G>A | ENSP00000351342.2:p.Pro256= | |
| ENST00000396168.1:c.696G>A | ENSP00000379471.1:p.Pro232= | |
| ENST00000396170.5:c.672G>A | ENSP00000379473.1:p.Pro224= | |
| ENST00000477854.5:c.180G>A | ENSP00000435056.1:p.Pro60= | |
| NM_001039970.1:c.672G>A | NP_001035059.1:p.Pro224= | |
| NM_001278236.1:c.672G>A | NP_001265165.1:p.Pro224= | |
| NM_001278238.1:c.696G>A | NP_001265167.1:p.Pro232= | |
| NM_001278239.1:c.600G>A | NP_001265168.1:p.Pro200= | |
| NM_006906.1:c.768G>A | NP_008837.1:p.Pro256= | |
| NM_032781.3:c.768G>A | NP_116170.3:p.Pro256= | |
| XM_011520411.1:c.768G>A | XP_011518713.1:p.Pro256= | |
| XM_011520412.1:c.651G>A | XP_011518714.1:p.Pro217= | |
| XM_011520411.3:c.768G>A | XP_011518713.1:p.Pro256= | |
| XM_017018434.2:c.768G>A | XP_016873923.1:p.Pro256= | |
| XM_017018435.2:c.768G>A | XP_016873924.1:p.Pro256= | |
| XM_017018436.1:c.696G>A | XP_016873925.1:p.Pro232= | |
| XM_017018437.1:c.672G>A | XP_016873926.1:p.Pro224= | |
| XM_017018438.2:c.651G>A | XP_016873927.1:p.Pro217= | |
| XM_017018439.1:c.600G>A | XP_016873928.1:p.Pro200= | |
| XM_017018440.2:c.768G>A | XP_016873929.1:p.Pro256= | |
| XM_017018441.2:c.768G>A | XP_016873930.1:p.Pro256= | |
| NM_006906.2:c.768G>A MANE Select | NP_008837.1:p.Pro256= | |
| NM_001039970.2:c.672G>A | NP_001035059.1:p.Pro224= | |
| NM_001278238.2:c.696G>A | NP_001265167.1:p.Pro232= | |
| NM_001278239.2:c.600G>A | NP_001265168.1:p.Pro200= | |
| NM_032781.4:c.768G>A | NP_116170.3:p.Pro256= |