Linked Data
dbSNP Id:
rs1444336967
gnomAD v2:
11-118963844-C-G
gnomAD v3:
11-119093134-C-G
gnomAD v4:
11-119093134-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093134C>G , CM000673.2:g.119093134C>G | GRCh38 |
| NC_000011.9:g.118963844C>G , CM000673.1:g.118963844C>G | GRCh37 |
| NC_000011.8:g.118469054C>G | NCBI36 |
| NG_008093.1:g.13258C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.772C>G | ENSP00000509288.1:p.Pro258Ala | |
| ENST00000691144.1:n.3152C>G | ||
| ENST00000691249.1:n.1761C>G | ||
| ENST00000442944.7:c.919C>G | ENSP00000392041.3:p.Pro307Ala | |
| ENST00000640813.1:c.*174C>G | ENSP00000491061.1:n.*174C>G | |
| ENST00000648026.1:c.831C>G | ENSP00000498044.1:n.831C>G | |
| ENST00000648374.1:c.886C>G | ENSP00000497255.1:p.Pro296Ala | |
| ENST00000650101.1:c.868C>G | ENSP00000496970.1:p.Pro290Ala | |
| ENST00000650307.1:n.1763C>G | ||
| ENST00000652429.1:c.937C>G MANE Select | ENSP00000498786.1:p.Pro313Ala | |
| ENST00000278715.7:c.937C>G | ENSP00000278715.3:p.Pro313Ala | |
| ENST00000392841.1:c.886C>G | ENSP00000376584.1:p.Pro296Ala | |
| ENST00000442944.6:c.886C>G | ENSP00000392041.2:p.Pro296Ala | |
| ENST00000537841.5:c.886C>G | ENSP00000444730.1:p.Pro296Ala | |
| ENST00000539045.1:n.436C>G | ||
| ENST00000542044.5:n.1382C>G | ||
| ENST00000542729.5:c.766C>G | ENSP00000443058.1:p.Pro256Ala | |
| ENST00000543090.5:c.844C>G | ENSP00000445429.1:p.Pro282Ala | |
| ENST00000543543.5:n.1412C>G | ||
| ENST00000544182.1:n.1386C>G | ||
| ENST00000544387.5:c.817C>G | ENSP00000438424.1:p.Pro273Ala | |
| ENST00000546226.5:n.1699C>G | ||
| NM_000190.3:c.937C>G | NP_000181.2:p.Pro313Ala | |
| NM_001024382.1:c.886C>G | NP_001019553.1:p.Pro296Ala | |
| NM_001258208.1:c.817C>G | NP_001245137.1:p.Pro273Ala | |
| NM_001258209.1:c.766C>G | NP_001245138.1:p.Pro256Ala | |
| XM_005271531.1:c.886C>G | XP_005271588.1:p.Pro296Ala | |
| XM_005271532.1:c.886C>G | XP_005271589.1:p.Pro296Ala | |
| XM_005271533.2:c.883C>G | XP_005271590.1:p.Pro295Ala | |
| XM_011542796.1:c.772C>G | XP_011541098.1:p.Pro258Ala | |
| NM_000190.4:c.937C>G MANE Select | NP_000181.2:p.Pro313Ala | |
| NM_001024382.2:c.886C>G | NP_001019553.1:p.Pro296Ala | |
| XM_005271533.3:c.883C>G | XP_005271590.1:p.Pro295Ala | |
| XM_017017629.1:c.886C>G | XP_016873118.1:p.Pro296Ala | |
| XM_024448460.1:c.763C>G | XP_024304228.1:p.Pro255Ala | |
| NM_001258208.2:c.817C>G | NP_001245137.1:p.Pro273Ala | |
| NM_001258209.2:c.766C>G | NP_001245138.1:p.Pro256Ala |