ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31340598G>T , CM000679.2:g.31340598G>T | GRCh38 |
| NC_000017.10:g.29667616G>T , CM000679.1:g.29667616G>T | GRCh37 |
| NC_000017.9:g.26691742G>T | NCBI36 |
| NG_009018.1:g.250622G>T , LRG_214:g.250622G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6997G>T | ENSP00000512431.1:p.Glu2333Ter | |
| ENST00000684826.1:c.1579G>T | ENSP00000509994.1:p.Glu527Ter | |
| ENST00000684998.1:n.4536G>T | ||
| ENST00000687027.1:c.1171G>T | ENSP00000508715.1:p.Glu391Ter | |
| ENST00000687863.1:n.3660G>T | ||
| ENST00000691014.1:c.7045G>T | ENSP00000510595.1:p.Glu2349Ter | |
| ENST00000693617.1:c.1579G>T | ENSP00000510031.1:p.Glu527Ter | |
| ENST00000358273.9:c.7015G>T MANE Select | ENSP00000351015.4:p.Glu2339Ter | |
| ENST00000356175.7:c.6952G>T | ENSP00000348498.3:p.Glu2318Ter | |
| ENST00000358273.8:c.7015G>T | ENSP00000351015.4:p.Glu2339Ter | |
| ENST00000456735.6:c.5950G>T | ENSP00000389907.2:p.Glu1984Ter | |
| ENST00000471572.6:c.398G>T | ||
| ENST00000579081.5:c.7151G>T | ENSP00000462408.1:n.7151G>T | |
| ENST00000581790.5:c.158G>T | ||
| ENST00000582892.1:n.304+15G>T | ||
| ENST00000584328.1:n.429G>T | ||
| NM_000267.3:c.6952G>T , LRG_214t1:c.6952G>T | NP_000258.1:p.Glu2318Ter | |
| NM_001042492.2:c.7015G>T , LRG_214t2:c.7015G>T | NP_001035957.1:p.Glu2339Ter | |
| XM_005257983.1:c.7015G>T | XP_005258040.1:p.Glu2339Ter | |
| XM_005257984.1:c.6952G>T | XP_005258041.1:p.Glu2318Ter | |
| XM_006721922.1:c.7045G>T | XP_006721985.1:p.Glu2349Ter | |
| XM_006721923.2:c.7006G>T | XP_006721986.1:p.Glu2336Ter | |
| XM_006721924.1:c.7045G>T | XP_006721987.1:p.Glu2349Ter | |
| XM_006721925.1:c.6982G>T | XP_006721988.1:p.Glu2328Ter | |
| XM_006721926.2:c.7045G>T | XP_006721989.1:p.Glu2349Ter | |
| XM_006721927.1:c.7045G>T | XP_006721990.1:p.Glu2349Ter | |
| XM_011524852.1:c.7042G>T | XP_011523154.1:p.Glu2348Ter | |
| XM_011524853.1:c.7006G>T | XP_011523155.1:p.Glu2336Ter | |
| XM_011524854.1:c.7006G>T | XP_011523156.1:p.Glu2336Ter | |
| XM_011524855.1:c.7006G>T | XP_011523157.1:p.Glu2336Ter | |
| XM_011524856.1:c.7006G>T | XP_011523158.1:p.Glu2336Ter | |
| XM_011524857.1:c.7045G>T | XP_011523159.1:p.Glu2349Ter | |
| NM_001042492.3:c.7015G>T MANE Select | NP_001035957.1:p.Glu2339Ter |