Linked Data
ClinVar Variation Id:
768237
ClinVar RCV Id:
RCV000947107
dbSNP Id:
rs11989986
ExAC:
8:42725178 C / T
gnomAD v2:
8-42725178-C-T
gnomAD v3:
8-42870035-C-T
gnomAD v4:
8-42870035-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42870035C>T , CM000670.2:g.42870035C>T | GRCh38 |
| NC_000008.10:g.42725178C>T , CM000670.1:g.42725178C>T | GRCh37 |
| NC_000008.9:g.42844335C>T | NCBI36 |
| NG_032868.1:g.31689G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527424.6:c.291G>A MANE Select | ENSP00000434797.1:p.Pro97= | |
| ENST00000240159.8:c.291G>A | ENSP00000240159.4:p.Pro97= | |
| ENST00000319073.5:c.291G>A | ENSP00000325969.5:p.Pro97= | |
| ENST00000319104.7:c.291G>A | ENSP00000326138.3:p.Pro97= | |
| ENST00000526349.5:c.39G>A | ENSP00000435782.1:p.Pro13= | |
| ENST00000527424.5:c.291G>A | ENSP00000434797.1:p.Pro97= | |
| ENST00000528318.5:n.538G>A | ||
| ENST00000531440.5:c.291G>A | ENSP00000436416.1:p.Pro97= | |
| ENST00000534961.5:c.291G>A | ENSP00000445725.1:p.Pro97= | |
| NM_001160223.1:c.291G>A | NP_001153695.1:p.Pro97= | |
| NM_001160224.1:c.291G>A | NP_001153696.1:p.Pro97= | |
| NM_001160225.1:c.39G>A | NP_001153697.1:p.Pro13= | |
| NM_030954.3:c.291G>A | NP_112216.3:p.Pro97= | |
| NR_027668.1:n.768G>A | ||
| NR_027669.1:n.538G>A | ||
| XM_006716404.1:c.291G>A | XP_006716467.1:p.Pro97= | |
| XM_006716405.1:c.215G>A | XP_006716468.1:p.Arg72Gln | |
| XM_006716406.2:c.39G>A | XP_006716469.1:p.Pro13= | |
| XM_006716407.2:c.291G>A | XP_006716470.1:p.Pro97= | |
| XM_011544666.1:c.291G>A | XP_011542968.1:p.Pro97= | |
| XM_006716404.2:c.291G>A | XP_006716467.1:p.Pro97= | |
| XM_006716405.3:c.215G>A | XP_006716468.1:p.Arg72Gln | |
| XM_011544666.3:c.291G>A | XP_011542968.1:p.Pro97= | |
| XM_017013881.1:c.291G>A | XP_016869370.1:p.Pro97= | |
| XM_017013882.2:c.39G>A | XP_016869371.1:p.Pro13= | |
| XR_001745604.2:n.538G>A | ||
| XR_001745605.1:n.347G>A | ||
| XR_001745606.1:n.305G>A | ||
| XR_002956648.1:n.700G>A | ||
| XR_002956649.1:n.458G>A | ||
| NM_030954.4:c.291G>A MANE Select | NP_112216.3:p.Pro97= | |
| NM_001160224.2:c.291G>A | NP_001153696.1:p.Pro97= | |
| NM_001160225.2:c.39G>A | NP_001153697.1:p.Pro13= | |
| NR_027668.2:n.650G>A | ||
| NR_027669.2:n.420G>A | ||
| NM_001160223.2:c.291G>A | NP_001153695.1:p.Pro97= |