Linked Data
ClinVar Variation Id:
480071
ClinVar RCV Id:
RCV000567066
RCV001124742
RCV001124744
RCV001124741
RCV001124743
RCV002311898
RCV004553255
dbSNP Id:
rs199999754
ExAC:
17:29533394 G / T
gnomAD v2:
17-29533394-G-T
gnomAD v3:
17-31206376-G-T
gnomAD v4:
17-31206376-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31206376G>T , CM000679.2:g.31206376G>T | GRCh38 |
| NC_000017.10:g.29533394G>T , CM000679.1:g.29533394G>T | GRCh37 |
| NC_000017.9:g.26557520G>T | NCBI36 |
| NG_009018.1:g.116400G>T , LRG_214:g.116400G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.1392+5G>T | ENSP00000512431.1:n.1392+5G>T | |
| ENST00000686189.1:c.837+5G>T | ENSP00000509682.1:n.837+5G>T | |
| ENST00000691014.1:c.1422+5G>T | ENSP00000510595.1:n.1422+5G>T | |
| ENST00000358273.9:c.1392+5G>T MANE Select | ENSP00000351015.4:n.1392+5G>T | |
| ENST00000356175.7:c.1392+5G>T | ENSP00000348498.3:n.1392+5G>T | |
| ENST00000358273.8:c.1392+5G>T | ENSP00000351015.4:n.1392+5G>T | |
| ENST00000431387.8:c.1392+5G>T | ENSP00000412921.4:n.1392+5G>T | |
| ENST00000456735.6:c.390+5G>T | ENSP00000389907.2:n.390+5G>T | |
| ENST00000487476.5:n.1775+5G>T | ||
| ENST00000495910.6:c.1167+5G>T | ||
| ENST00000579081.5:c.1494+5G>T | ENSP00000462408.1:n.1494+5G>T | |
| NM_000267.3:c.1392+5G>T , LRG_214t1:c.1392+5G>T | NP_000258.1:n.1392+5G>T | |
| NM_001042492.2:c.1392+5G>T , LRG_214t2:c.1392+5G>T | NP_001035957.1:n.1392+5G>T | |
| NM_001128147.2:c.1392+5G>T | NP_001121619.1:n.1392+5G>T | |
| XM_005257983.1:c.1392+5G>T | XP_005258040.1:n.1392+5G>T | |
| XM_005257984.1:c.1392+5G>T | XP_005258041.1:n.1392+5G>T | |
| XM_006721922.1:c.1422+5G>T | XP_006721985.1:n.1422+5G>T | |
| XM_006721923.2:c.1383+5G>T | XP_006721986.1:n.1383+5G>T | |
| XM_006721924.1:c.1422+5G>T | XP_006721987.1:n.1422+5G>T | |
| XM_006721925.1:c.1422+5G>T | XP_006721988.1:n.1422+5G>T | |
| XM_006721926.2:c.1422+5G>T | XP_006721989.1:n.1422+5G>T | |
| XM_006721927.1:c.1422+5G>T | XP_006721990.1:n.1422+5G>T | |
| XM_006721928.2:c.1422+5G>T | XP_006721991.1:n.1422+5G>T | |
| XM_011524852.1:c.1422+5G>T | XP_011523154.1:n.1422+5G>T | |
| XM_011524853.1:c.1383+5G>T | XP_011523155.1:n.1383+5G>T | |
| XM_011524854.1:c.1383+5G>T | XP_011523156.1:n.1383+5G>T | |
| XM_011524855.1:c.1383+5G>T | XP_011523157.1:n.1383+5G>T | |
| XM_011524856.1:c.1383+5G>T | XP_011523158.1:n.1383+5G>T | |
| XM_011524857.1:c.1422+5G>T | XP_011523159.1:n.1422+5G>T | |
| NM_001042492.3:c.1392+5G>T MANE Select | NP_001035957.1:n.1392+5G>T | |
| NM_001128147.3:c.1392+5G>T | NP_001121619.1:n.1392+5G>T |