Linked Data
ClinVar Variation Id:
14162
dbSNP Id:
rs17292650
ExAC:
1:43803807 G / T
gnomAD v2:
1-43803807-G-T
gnomAD v3:
1-43338136-G-T
gnomAD v4:
1-43338136-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338136G>T , CM000663.2:g.43338136G>T | GRCh38 |
| NC_000001.10:g.43803807G>T , CM000663.1:g.43803807G>T | GRCh37 |
| NC_000001.9:g.43576394G>T | NCBI36 |
| NG_007525.1:g.5333G>T , LRG_510:g.5333G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372470.9:c.117G>T MANE Select | ENSP00000361548.3:p.Lys39Asn | |
| ENST00000413998.7:c.96G>T | ENSP00000414004.3:p.Lys32Asn | |
| ENST00000638732.1:n.117G>T | ||
| ENST00000372470.7:c.117G>T | ENSP00000361548.3:p.Lys39Asn | |
| ENST00000413998.6:c.117G>T | ENSP00000414004.2:p.Lys39Asn | |
| ENST00000612993.1:c.117G>T | ENSP00000480273.1:p.Lys39Asn | |
| NM_005373.2:c.117G>T , LRG_510t1:c.117G>T | NP_005364.1:p.Lys39Asn | |
| XM_011541478.1:c.96G>T | XP_011539780.1:p.Lys32Asn | |
| XM_017001320.1:c.288G>T | XP_016856809.1:p.Lys96Asn | |
| NM_005373.3:c.117G>T MANE Select | NP_005364.1:p.Lys39Asn |