Linked Data
ClinVar Variation Id:
283440
dbSNP Id:
rs749921940
ExAC:
6:152590429 T / G
gnomAD v2:
6-152590429-T-G
gnomAD v3:
6-152269294-T-G
gnomAD v4:
6-152269294-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152269294T>G , CM000668.2:g.152269294T>G | GRCh38 |
| NC_000006.11:g.152590429T>G , CM000668.1:g.152590429T>G | GRCh37 |
| NC_000006.10:g.152632122T>G | NCBI36 |
| NG_012855.1:g.373106A>C | |
| NG_012855.2:g.373106A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.18574-8A>C MANE Select | ENSP00000356224.5:n.18574-8A>C | |
| ENST00000423061.6:c.18361-8A>C | ENSP00000396024.1:n.18361-8A>C | |
| ENST00000341594.9:c.17359-8A>C | ENSP00000341887.6:n.17359-8A>C | |
| ENST00000367255.9:c.18574-8A>C | ENSP00000356224.5:n.18574-8A>C | |
| ENST00000367256.9:n.2266-8A>C | ||
| ENST00000409694.6:n.2158-8A>C | ||
| ENST00000423061.5:c.18361-8A>C | ENSP00000396024.1:n.18361-8A>C | |
| NM_033071.3:c.18361-8A>C | NP_149062.1:n.18361-8A>C | |
| NM_182961.3:c.18574-8A>C | NP_892006.3:n.18574-8A>C | |
| XM_006715407.1:c.18607-5A>C | XP_006715470.1:n.18607-5A>C | |
| XM_006715408.1:c.18595-5A>C | XP_006715471.1:n.18595-5A>C | |
| XM_006715409.1:c.18586-5A>C | XP_006715472.1:n.18586-5A>C | |
| XM_006715410.1:c.18607-5A>C | XP_006715473.1:n.18607-5A>C | |
| XM_006715411.1:c.18556-5A>C | XP_006715474.1:n.18556-5A>C | |
| XM_006715412.1:c.18595-8A>C | XP_006715475.1:n.18595-8A>C | |
| XM_006715413.1:c.18607-5A>C | XP_006715476.1:n.18607-5A>C | |
| XM_006715414.1:c.18535-5A>C | XP_006715477.1:n.18535-5A>C | |
| XM_006715415.1:c.18607-5A>C | XP_006715478.1:n.18607-5A>C | |
| XM_006715416.1:c.18595-8A>C | XP_006715479.1:n.18595-8A>C | |
| XM_006715417.1:c.18466-5A>C | XP_006715480.1:n.18466-5A>C | |
| XM_006715420.1:c.18454-5A>C | XP_006715483.1:n.18454-5A>C | |
| XM_006715421.1:c.18451-5A>C | XP_006715484.1:n.18451-5A>C | |
| XM_006715422.1:c.18448-5A>C | XP_006715485.1:n.18448-5A>C | |
| XM_006715423.1:c.18607-5A>C | XP_006715486.1:n.18607-5A>C | |
| XM_006715424.1:c.18607-5A>C | XP_006715487.1:n.18607-5A>C | |
| XM_006715425.1:c.18607-5A>C | XP_006715488.1:n.18607-5A>C | |
| XM_011535641.1:c.18607-8A>C | XP_011533943.1:n.18607-8A>C | |
| XM_011535642.1:c.18595-8A>C | XP_011533944.1:n.18595-8A>C | |
| XM_011535643.1:c.18442-5A>C | XP_011533945.1:n.18442-5A>C | |
| XM_011535644.1:c.16882-5A>C | XP_011533946.1:n.16882-5A>C | |
| XM_011535645.1:c.16375-5A>C | XP_011533947.1:n.16375-5A>C | |
| XM_011535646.1:c.18607-5A>C | XP_011533948.1:n.18607-5A>C | |
| XM_011535647.1:c.11842-5A>C | XP_011533949.1:n.11842-5A>C | |
| XM_006715408.2:c.18595-5A>C | XP_006715471.1:n.18595-5A>C | |
| XM_006715410.2:c.18607-5A>C | XP_006715473.1:n.18607-5A>C | |
| XM_006715412.2:c.18595-8A>C | XP_006715475.1:n.18595-8A>C | |
| XM_006715413.2:c.18607-5A>C | XP_006715476.1:n.18607-5A>C | |
| XM_006715415.2:c.18607-5A>C | XP_006715478.1:n.18607-5A>C | |
| XM_006715416.2:c.18595-8A>C | XP_006715479.1:n.18595-8A>C | |
| XM_006715417.2:c.18466-5A>C | XP_006715480.1:n.18466-5A>C | |
| XM_006715420.2:c.18454-5A>C | XP_006715483.1:n.18454-5A>C | |
| XM_006715421.2:c.18451-5A>C | XP_006715484.1:n.18451-5A>C | |
| XM_006715423.2:c.18607-5A>C | XP_006715486.1:n.18607-5A>C | |
| XM_006715424.2:c.18607-5A>C | XP_006715487.1:n.18607-5A>C | |
| XM_006715425.2:c.18607-5A>C | XP_006715488.1:n.18607-5A>C | |
| XM_011535641.2:c.18607-8A>C | XP_011533943.1:n.18607-8A>C | |
| XM_011535642.2:c.18595-8A>C | XP_011533944.1:n.18595-8A>C | |
| XM_011535645.2:c.16375-5A>C | XP_011533947.1:n.16375-5A>C | |
| XM_017010608.1:c.18607-5A>C | XP_016866097.1:n.18607-5A>C | |
| XM_017010609.1:c.18607-5A>C | XP_016866098.1:n.18607-5A>C | |
| XM_017010610.1:c.18586-5A>C | XP_016866099.1:n.18586-5A>C | |
| XM_017010611.2:c.18580-5A>C | XP_016866100.1:n.18580-5A>C | |
| XM_017010612.1:c.18529-5A>C | XP_016866101.1:n.18529-5A>C | |
| XM_017010613.1:c.18607-8A>C | XP_016866102.1:n.18607-8A>C | |
| XM_017010614.1:c.18454-8A>C | XP_016866103.1:n.18454-8A>C | |
| XM_017010615.1:c.18454-8A>C | XP_016866104.1:n.18454-8A>C | |
| XM_017010616.1:c.18607-5A>C | XP_016866105.1:n.18607-5A>C | |
| XM_017010617.1:c.18607-8A>C | XP_016866106.1:n.18607-8A>C | |
| XM_017010618.1:c.18595-8A>C | XP_016866107.1:n.18595-8A>C | |
| XM_017010619.1:c.16882-5A>C | XP_016866108.1:n.16882-5A>C | |
| XR_001743287.1:n.19090-5A>C | ||
| NM_182961.4:c.18574-8A>C MANE Select | NP_892006.3:n.18574-8A>C | |
| NM_033071.5:c.18361-8A>C | NP_149062.2:n.18361-8A>C |