Linked Data
dbSNP Id:
rs1050095
ExAC:
X:153633383 C / T
gnomAD v2:
X-153633383-C-T
gnomAD v3:
X-154405042-C-T
gnomAD v4:
X-154405042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154405042C>T , CM000685.2:g.154405042C>T | GRCh38 |
| NC_000023.10:g.153633383C>T , CM000685.1:g.153633383C>T | GRCh37 |
| NC_000023.9:g.153286577C>T | NCBI36 |
| NG_012884.2:g.12047G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369807.6:c.177G>A (DNASE1L1) MANE Select | ENSP00000358822.1:p.Val59= | |
| ENST00000014935.7:c.177G>A (DNASE1L1) | ENSP00000014935.3:p.Val59= | |
| ENST00000309585.9:c.177G>A (DNASE1L1) | ENSP00000309168.5:p.Val59= | |
| ENST00000369807.5:c.177G>A (DNASE1L1) | ENSP00000358822.1:p.Val59= | |
| ENST00000369808.7:c.177G>A (DNASE1L1) | ENSP00000358823.3:p.Val59= | |
| ENST00000369809.5:c.177G>A (DNASE1L1) | ENSP00000358824.1:p.Val59= | |
| ENST00000393638.5:c.177G>A (DNASE1L1) | ENSP00000377255.1:p.Val59= | |
| ENST00000412184.1:c.135+392G>A (DNASE1L1) | ENSP00000416881.1:n.135+392G>A | |
| ENST00000424626.5:c.177G>A (DNASE1L1) | ENSP00000393000.1:p.Val59= | |
| ENST00000428169.1:c.223-4057C>T (RPL10) | ENSP00000398047.1:n.223-4057C>T | |
| ENST00000447892.1:c.135+392G>A (DNASE1L1) | ENSP00000395591.1:n.135+392G>A | |
| ENST00000451865.5:c.177G>A (DNASE1L1) | ENSP00000393346.1:p.Val59= | |
| NM_001009932.2:c.177G>A (DNASE1L1) | NP_001009932.1:p.Val59= | |
| NM_001009933.2:c.177G>A (DNASE1L1) | NP_001009933.1:p.Val59= | |
| NM_001009934.2:c.177G>A (DNASE1L1) | NP_001009934.1:p.Val59= | |
| NM_001303620.1:c.177G>A (DNASE1L1) | NP_001290549.1:p.Val59= | |
| NM_006730.3:c.177G>A (DNASE1L1) | NP_006721.1:p.Val59= | |
| XM_005277829.3:c.177G>A (DNASE1L1) | XP_005277886.1:p.Val59= | |
| XM_011531121.1:c.177G>A (DNASE1L1) | XP_011529423.1:p.Val59= | |
| XM_011531122.1:c.177G>A (DNASE1L1) | XP_011529424.1:p.Val59= | |
| XR_938506.1:n.931G>A (DNASE1L1) | ||
| XM_005277829.4:c.177G>A (DNASE1L1) | XP_005277886.1:p.Val59= | |
| XM_011531122.2:c.177G>A (DNASE1L1) | XP_011529424.1:p.Val59= | |
| XM_017029332.1:c.177G>A (DNASE1L1) | XP_016884821.1:p.Val59= | |
| NM_001303620.2:c.177G>A (DNASE1L1) MANE Select | NP_001290549.1:p.Val59= | |
| NM_001009933.3:c.177G>A (DNASE1L1) | NP_001009933.1:p.Val59= | |
| NM_006730.4:c.177G>A (DNASE1L1) | NP_006721.1:p.Val59= | |
| NM_001009932.3:c.177G>A (DNASE1L1) | NP_001009932.1:p.Val59= | |
| NM_001009934.3:c.177G>A (DNASE1L1) | NP_001009934.1:p.Val59= |