Linked Data
ClinVar Variation Id:
428948
dbSNP Id:
rs1131691073
gnomAD v4:
17-31340553-C-T
PubMed:
PMID:21354044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31340553C>T , CM000679.2:g.31340553C>T | GRCh38 |
| NC_000017.10:g.29667571C>T , CM000679.1:g.29667571C>T | GRCh37 |
| NC_000017.9:g.26691697C>T | NCBI36 |
| NG_009018.1:g.250577C>T , LRG_214:g.250577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6952C>T | ENSP00000512431.1:p.Gln2318Ter | |
| ENST00000684826.1:c.1534C>T | ENSP00000509994.1:p.Gln512Ter | |
| ENST00000684998.1:n.4491C>T | ||
| ENST00000687027.1:c.1126C>T | ENSP00000508715.1:p.Gln376Ter | |
| ENST00000687863.1:n.3615C>T | ||
| ENST00000691014.1:c.7000C>T | ENSP00000510595.1:p.Gln2334Ter | |
| ENST00000693617.1:c.1534C>T | ENSP00000510031.1:p.Gln512Ter | |
| ENST00000358273.9:c.6970C>T MANE Select | ENSP00000351015.4:p.Gln2324Ter | |
| ENST00000356175.7:c.6907C>T | ENSP00000348498.3:p.Gln2303Ter | |
| ENST00000358273.8:c.6970C>T | ENSP00000351015.4:p.Gln2324Ter | |
| ENST00000456735.6:c.5905C>T | ENSP00000389907.2:p.Gln1969Ter | |
| ENST00000471572.6:c.353C>T | ||
| ENST00000579081.5:c.7106C>T | ENSP00000462408.1:n.7106C>T | |
| ENST00000581790.5:c.113C>T | ||
| ENST00000582892.1:n.274C>T | ||
| ENST00000584328.1:n.384C>T | ||
| NM_000267.3:c.6907C>T , LRG_214t1:c.6907C>T | NP_000258.1:p.Gln2303Ter | |
| NM_001042492.2:c.6970C>T , LRG_214t2:c.6970C>T | NP_001035957.1:p.Gln2324Ter | |
| XM_005257983.1:c.6970C>T | XP_005258040.1:p.Gln2324Ter | |
| XM_005257984.1:c.6907C>T | XP_005258041.1:p.Gln2303Ter | |
| XM_006721922.1:c.7000C>T | XP_006721985.1:p.Gln2334Ter | |
| XM_006721923.2:c.6961C>T | XP_006721986.1:p.Gln2321Ter | |
| XM_006721924.1:c.7000C>T | XP_006721987.1:p.Gln2334Ter | |
| XM_006721925.1:c.6937C>T | XP_006721988.1:p.Gln2313Ter | |
| XM_006721926.2:c.7000C>T | XP_006721989.1:p.Gln2334Ter | |
| XM_006721927.1:c.7000C>T | XP_006721990.1:p.Gln2334Ter | |
| XM_011524852.1:c.6997C>T | XP_011523154.1:p.Gln2333Ter | |
| XM_011524853.1:c.6961C>T | XP_011523155.1:p.Gln2321Ter | |
| XM_011524854.1:c.6961C>T | XP_011523156.1:p.Gln2321Ter | |
| XM_011524855.1:c.6961C>T | XP_011523157.1:p.Gln2321Ter | |
| XM_011524856.1:c.6961C>T | XP_011523158.1:p.Gln2321Ter | |
| XM_011524857.1:c.7000C>T | XP_011523159.1:p.Gln2334Ter | |
| NM_001042492.3:c.6970C>T MANE Select | NP_001035957.1:p.Gln2324Ter |