Linked Data
ClinVar Variation Id:
215725
ClinVar RCV Id:
RCV000243785
RCV000679410
RCV001081743
RCV001125651
RCV001125652
RCV001125653
RCV002256109
dbSNP Id:
rs369366499
ExAC:
17:29509520 A / C
gnomAD v2:
17-29509520-A-C
gnomAD v3:
17-31182502-A-C
gnomAD v4:
17-31182502-A-C
PubMed:
PMID:12552569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31182502A>C , CM000679.2:g.31182502A>C | GRCh38 |
| NC_000017.10:g.29509520A>C , CM000679.1:g.29509520A>C | GRCh37 |
| NC_000017.9:g.26533646A>C | NCBI36 |
| NG_009018.1:g.92526A>C , LRG_214:g.92526A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.731-6A>C | ENSP00000512431.1:n.731-6A>C | |
| ENST00000686189.1:c.146-6A>C | ENSP00000509682.1:n.146-6A>C | |
| ENST00000691014.1:c.731-6A>C | ENSP00000510595.1:n.731-6A>C | |
| ENST00000358273.9:c.731-6A>C MANE Select | ENSP00000351015.4:n.731-6A>C | |
| ENST00000490416.2:c.311-6A>C | ENSP00000491431.1:n.311-6A>C | |
| ENST00000356175.7:c.731-6A>C | ENSP00000348498.3:n.731-6A>C | |
| ENST00000358273.8:c.731-6A>C | ENSP00000351015.4:n.731-6A>C | |
| ENST00000431387.8:c.731-6A>C | ENSP00000412921.4:n.731-6A>C | |
| ENST00000487476.5:n.1114-6A>C | ||
| ENST00000490416.1:n.365-6A>C | ||
| ENST00000495910.6:c.506-6A>C | ||
| ENST00000579081.5:c.833-6A>C | ENSP00000462408.1:n.833-6A>C | |
| NM_000267.3:c.731-6A>C , LRG_214t1:c.731-6A>C | NP_000258.1:n.731-6A>C | |
| NM_001042492.2:c.731-6A>C , LRG_214t2:c.731-6A>C | NP_001035957.1:n.731-6A>C | |
| NM_001128147.2:c.731-6A>C | NP_001121619.1:n.731-6A>C | |
| XM_005257983.1:c.731-6A>C | XP_005258040.1:n.731-6A>C | |
| XM_005257984.1:c.731-6A>C | XP_005258041.1:n.731-6A>C | |
| XM_006721922.1:c.731-6A>C | XP_006721985.1:n.731-6A>C | |
| XM_006721923.2:c.692-6A>C | XP_006721986.1:n.692-6A>C | |
| XM_006721924.1:c.731-6A>C | XP_006721987.1:n.731-6A>C | |
| XM_006721925.1:c.731-6A>C | XP_006721988.1:n.731-6A>C | |
| XM_006721926.2:c.731-6A>C | XP_006721989.1:n.731-6A>C | |
| XM_006721927.1:c.731-6A>C | XP_006721990.1:n.731-6A>C | |
| XM_006721928.2:c.731-6A>C | XP_006721991.1:n.731-6A>C | |
| XM_011524852.1:c.731-6A>C | XP_011523154.1:n.731-6A>C | |
| XM_011524853.1:c.692-6A>C | XP_011523155.1:n.692-6A>C | |
| XM_011524854.1:c.692-6A>C | XP_011523156.1:n.692-6A>C | |
| XM_011524855.1:c.692-6A>C | XP_011523157.1:n.692-6A>C | |
| XM_011524856.1:c.692-6A>C | XP_011523158.1:n.692-6A>C | |
| XM_011524857.1:c.731-6A>C | XP_011523159.1:n.731-6A>C | |
| NM_001042492.3:c.731-6A>C MANE Select | NP_001035957.1:n.731-6A>C | |
| NM_001128147.3:c.731-6A>C | NP_001121619.1:n.731-6A>C |