Linked Data
ClinVar Variation Id:
2860662
ClinVar RCV Id:
RCV003696983
dbSNP Id:
rs201755119
ExAC:
19:35757779 C / T
gnomAD v2:
19-35757779-C-T
gnomAD v3:
19-35266876-C-T
gnomAD v4:
19-35266876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35266876C>T , CM000681.2:g.35266876C>T | GRCh38 |
| NC_000019.9:g.35757779C>T , CM000681.1:g.35757779C>T | GRCh37 |
| NC_000019.8:g.40449619C>T | NCBI36 |
| NG_029241.1:g.2884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605618.6:c.1053C>T MANE Select | ENSP00000474797.2:p.Asp351= | |
| ENST00000347609.8:c.1023C>T | ENSP00000262627.3:p.Asp341= | |
| ENST00000354900.7:c.1140C>T | ENSP00000346976.2:p.Asp380= | |
| ENST00000360798.7:c.993C>T | ENSP00000354034.2:p.Asp331= | |
| ENST00000361790.7:c.1197C>T | ENSP00000354575.2:p.Asp399= | |
| ENST00000427250.5:c.729C>T | ENSP00000394479.1:p.Asp243= | |
| ENST00000597446.1:n.235C>T | ||
| ENST00000602122.5:c.1137C>T | ENSP00000472569.1:p.Asp379= | |
| ENST00000605618.5:c.1053C>T | ENSP00000474797.2:p.Asp351= | |
| ENST00000621372.4:c.1197C>T | ENSP00000480821.1:p.Asp399= | |
| NM_001260489.1:c.1137C>T | NP_001247418.1:p.Asp379= | |
| NM_001260490.1:c.873C>T | NP_001247419.1:p.Asp291= | |
| NM_015925.6:c.1140C>T | NP_057009.3:p.Asp380= | |
| NM_205834.3:c.1197C>T | NP_991403.1:p.Asp399= | |
| NM_205835.3:c.993C>T | NP_991404.1:p.Asp331= | |
| XM_005258980.1:c.1194C>T | XP_005259037.1:p.Asp398= | |
| XM_005258982.1:c.990C>T | XP_005259039.1:p.Asp330= | |
| XM_011527026.1:c.1050C>T | XP_011525328.1:p.Asp350= | |
| XM_005258980.2:c.1194C>T | XP_005259037.1:p.Asp398= | |
| XM_005258982.2:c.990C>T | XP_005259039.1:p.Asp330= | |
| XM_011527026.2:c.1050C>T | XP_011525328.1:p.Asp350= | |
| NM_001260489.2:c.993C>T | NP_001247418.2:p.Asp331= | |
| NM_001260490.2:c.729C>T | NP_001247419.2:p.Asp243= | |
| NM_001385215.1:c.846C>T | NP_001372144.1:p.Asp282= | |
| NM_015925.7:c.996C>T | NP_057009.4:p.Asp332= | |
| NM_205834.4:c.1053C>T MANE Select | NP_991403.2:p.Asp351= | |
| NM_205835.4:c.849C>T | NP_991404.2:p.Asp283= |