Linked Data
dbSNP Id:
rs769516419
ExAC:
11:219065 G / A
gnomAD v2:
11-219065-G-A
gnomAD v3:
11-219065-G-A
gnomAD v4:
11-219065-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.219065G>A , CM000673.2:g.219065G>A | GRCh38 |
| NC_000011.9:g.219065G>A , CM000673.1:g.219065G>A | GRCh37 |
| NC_000011.8:g.209065G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382743.9:c.970-24C>T MANE Select | ENSP00000372191.4:n.970-24C>T | |
| ENST00000382743.8:c.970-24C>T | ENSP00000372191.4:n.970-24C>T | |
| ENST00000524564.5:c.778-24C>T | ENSP00000432937.1:n.778-24C>T | |
| ENST00000525319.5:c.727-24C>T | ENSP00000435464.1:n.727-24C>T | |
| ENST00000529382.5:c.544-24C>T | ENSP00000437216.1:n.544-24C>T | |
| ENST00000529937.1:c.*1376-24C>T | ENSP00000434747.1:n.*1376-24C>T | |
| ENST00000532837.5:c.*683-24C>T | ENSP00000433899.1:n.*683-24C>T | |
| ENST00000532956.5:c.808-24C>T | ENSP00000433077.1:n.808-24C>T | |
| NM_001017524.2:c.544-24C>T | NP_001017524.1:n.544-24C>T | |
| NM_012239.5:c.970-24C>T | NP_036371.1:n.970-24C>T | |
| XM_005252835.1:c.970-24C>T | XP_005252892.1:n.970-24C>T | |
| XM_011519956.1:c.544-24C>T | XP_011518258.1:n.544-24C>T | |
| XM_011519957.1:c.544-24C>T | XP_011518259.1:n.544-24C>T | |
| XM_011519956.2:c.544-24C>T | XP_011518258.1:n.544-24C>T | |
| XM_011519957.2:c.544-24C>T | XP_011518259.1:n.544-24C>T | |
| XM_017017428.1:c.544-24C>T | XP_016872917.1:n.544-24C>T | |
| XM_017017429.1:c.544-24C>T | XP_016872918.1:n.544-24C>T | |
| XM_017017430.2:c.544-24C>T | XP_016872919.1:n.544-24C>T | |
| XM_017017431.1:c.544-24C>T | XP_016872920.1:n.544-24C>T | |
| XM_024448410.1:c.544-24C>T | XP_024304178.1:n.544-24C>T | |
| XR_001747817.1:n.1093-24C>T | ||
| NM_012239.6:c.970-24C>T MANE Select | NP_036371.1:n.970-24C>T | |
| NM_001370310.1:c.970-24C>T | NP_001357239.1:n.970-24C>T | |
| NM_001370312.1:c.778-24C>T | NP_001357241.1:n.778-24C>T | |
| NM_001370314.1:c.808-24C>T | NP_001357243.1:n.808-24C>T | |
| NM_001370315.1:c.727-24C>T | NP_001357244.1:n.727-24C>T | |
| NM_001370316.1:c.298-24C>T | NP_001357245.1:n.298-24C>T | |
| NM_001370317.1:c.154-24C>T | NP_001357246.1:n.154-24C>T | |
| NM_001370318.1:c.544-24C>T | NP_001357247.1:n.544-24C>T | |
| NM_001370319.1:c.544-24C>T | NP_001357248.1:n.544-24C>T | |
| NM_001370320.1:c.544-24C>T | NP_001357249.1:n.544-24C>T | |
| NM_001370321.1:c.544-24C>T | NP_001357250.1:n.544-24C>T | |
| NM_001370322.1:c.544-24C>T | NP_001357251.1:n.544-24C>T | |
| NM_001370323.1:c.544-24C>T | NP_001357252.1:n.544-24C>T | |
| NM_001370324.1:c.544-2347C>T | NP_001357253.1:n.544-2347C>T | |
| NM_001370325.1:c.544-2347C>T | NP_001357254.1:n.544-2347C>T | |
| NR_163386.1:n.1159-24C>T | ||
| NR_163387.1:n.1046-24C>T | ||
| NR_163388.1:n.1094-24C>T | ||
| NR_163389.1:n.1414-24C>T | ||
| NR_163390.1:n.1094-24C>T | ||
| NR_163391.1:n.1277C>T | ||
| NR_163392.1:n.1503-24C>T | ||
| NR_163393.1:n.1568-24C>T | ||
| NR_163394.1:n.992-24C>T | ||
| NR_163395.1:n.1247-24C>T | ||
| NR_163396.1:n.1073-24C>T | ||
| NR_163397.1:n.879-24C>T | ||
| NR_163398.1:n.992-24C>T | ||
| NR_163399.1:n.1393-24C>T | ||
| NR_163400.1:n.927-24C>T | ||
| NR_163401.1:n.1482-24C>T | ||
| NR_163402.1:n.1519C>T | ||
| NM_001017524.3:c.544-24C>T | NP_001017524.1:n.544-24C>T |