Linked Data
ClinVar Variation Id:
227742
ClinVar RCV Id:
RCV000218790
RCV000398510
RCV000310146
RCV000364871
RCV000368229
RCV000679393
RCV002255320
dbSNP Id:
rs368649260
ExAC:
17:29588886 A / G
gnomAD v2:
17-29588886-A-G
gnomAD v3:
17-31261868-A-G
gnomAD v4:
17-31261868-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31261868A>G , CM000679.2:g.31261868A>G | GRCh38 |
| NC_000017.10:g.29588886A>G , CM000679.1:g.29588886A>G | GRCh37 |
| NC_000017.9:g.26613012A>G | NCBI36 |
| NG_009018.1:g.171892A>G , LRG_214:g.171892A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.526+11A>G | ENSP00000492721.2:n.526+11A>G | |
| ENST00000696138.1:c.4706+11A>G | ENSP00000512431.1:n.4706+11A>G | |
| ENST00000696140.1:n.830+11A>G | ||
| ENST00000696141.1:c.715+11A>G | ||
| ENST00000687863.1:n.1369+11A>G | ||
| ENST00000691014.1:c.4754+11A>G | ENSP00000510595.1:n.4754+11A>G | |
| ENST00000358273.9:c.4724+11A>G MANE Select | ENSP00000351015.4:n.4724+11A>G | |
| ENST00000356175.7:c.4661+11A>G | ENSP00000348498.3:n.4661+11A>G | |
| ENST00000358273.8:c.4724+11A>G | ENSP00000351015.4:n.4724+11A>G | |
| ENST00000456735.6:c.3659+11A>G | ENSP00000389907.2:n.3659+11A>G | |
| ENST00000493220.5:n.3197+11A>G | ||
| ENST00000579081.5:c.4763+11A>G | ENSP00000462408.1:n.4763+11A>G | |
| NM_000267.3:c.4661+11A>G , LRG_214t1:c.4661+11A>G | NP_000258.1:n.4661+11A>G | |
| NM_001042492.2:c.4724+11A>G , LRG_214t2:c.4724+11A>G | NP_001035957.1:n.4724+11A>G | |
| XM_005257983.1:c.4724+11A>G | XP_005258040.1:n.4724+11A>G | |
| XM_005257984.1:c.4661+11A>G | XP_005258041.1:n.4661+11A>G | |
| XM_006721922.1:c.4754+11A>G | XP_006721985.1:n.4754+11A>G | |
| XM_006721923.2:c.4715+11A>G | XP_006721986.1:n.4715+11A>G | |
| XM_006721924.1:c.4754+11A>G | XP_006721987.1:n.4754+11A>G | |
| XM_006721925.1:c.4691+11A>G | XP_006721988.1:n.4691+11A>G | |
| XM_006721926.2:c.4754+11A>G | XP_006721989.1:n.4754+11A>G | |
| XM_006721927.1:c.4754+11A>G | XP_006721990.1:n.4754+11A>G | |
| XM_006721928.2:c.4754+11A>G | XP_006721991.1:n.4754+11A>G | |
| XM_011524852.1:c.4751+11A>G | XP_011523154.1:n.4751+11A>G | |
| XM_011524853.1:c.4715+11A>G | XP_011523155.1:n.4715+11A>G | |
| XM_011524854.1:c.4715+11A>G | XP_011523156.1:n.4715+11A>G | |
| XM_011524855.1:c.4715+11A>G | XP_011523157.1:n.4715+11A>G | |
| XM_011524856.1:c.4715+11A>G | XP_011523158.1:n.4715+11A>G | |
| XM_011524857.1:c.4754+11A>G | XP_011523159.1:n.4754+11A>G | |
| NM_001042492.3:c.4724+11A>G MANE Select | NP_001035957.1:n.4724+11A>G |