Linked Data
ClinVar Variation Id:
92654
dbSNP Id:
rs1800351
ExAC:
13:23824783 T / G
gnomAD v2:
13-23824783-T-G
gnomAD v3:
13-23250644-T-G
gnomAD v4:
13-23250644-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23250644T>G , CM000675.2:g.23250644T>G | GRCh38 |
| NC_000013.10:g.23824783T>G , CM000675.1:g.23824783T>G | GRCh37 |
| NC_000013.9:g.22722783T>G | NCBI36 |
| NG_008759.1:g.74724T>G , LRG_207:g.74724T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.312T>G MANE Select | ENSP00000218867.3:p.Leu104= | |
| ENST00000218867.3:c.312T>G | ENSP00000218867.3:p.Leu104= | |
| NM_000231.2:c.312T>G , LRG_207t1:c.312T>G | NP_000222.1:p.Leu104= | |
| XM_005266505.2:c.312T>G | XP_005266562.1:p.Leu104= | |
| XM_006719861.2:c.366T>G | XP_006719924.1:p.Leu122= | |
| XM_006719861.3:c.366T>G | XP_006719924.1:p.Leu122= | |
| XM_024449397.1:c.312T>G | XP_024305165.1:p.Leu104= | |
| NM_000231.3:c.312T>G MANE Select | NP_000222.2:p.Leu104= | |
| NM_001378244.1:c.366T>G | NP_001365173.1:p.Leu122= | |
| NM_001378245.1:c.312T>G | NP_001365174.1:p.Leu104= | |
| NM_001378246.1:c.312T>G | NP_001365175.1:p.Leu104= |