Linked Data
dbSNP Id:
rs757644369
ExAC:
22:19906386 T / C
gnomAD v2:
22-19906386-T-C
gnomAD v4:
22-19918863-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918863T>C , CM000684.2:g.19918863T>C | GRCh38 |
| NC_000022.10:g.19906386T>C , CM000684.1:g.19906386T>C | GRCh37 |
| NC_000022.9:g.18286386T>C | NCBI36 |
| NG_011835.1:g.27974A>G , LRG_417:g.27974A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.371A>G MANE Select | ENSP00000383365.1:p.Asp124Gly | |
| ENST00000334363.14:c.371A>G | ENSP00000334451.9:p.Asp124Gly | |
| ENST00000400518.5:c.281A>G | ENSP00000383362.1:p.Asp94Gly | |
| ENST00000400519.6:c.368A>G | ENSP00000383363.1:p.Asp123Gly | |
| ENST00000400521.6:c.371A>G | ENSP00000383365.1:p.Asp124Gly | |
| ENST00000400525.6:c.302A>G | ENSP00000383369.3:p.Asp101Gly | |
| ENST00000474308.5:c.314A>G | ENSP00000485665.1:p.Asp105Gly | |
| ENST00000491939.6:c.275A>G | ENSP00000485543.1:p.Asp92Gly | |
| ENST00000496729.2:n.376A>G | ||
| ENST00000542719.6:c.83A>G | ENSP00000485128.2:p.Asp28Gly | |
| NM_001282512.1:c.371A>G | NP_001269441.1:p.Asp124Gly | |
| NM_006440.4:c.371A>G | NP_006431.2:p.Asp124Gly | |
| NM_001282512.2:c.371A>G | NP_001269441.1:p.Asp124Gly | |
| NM_001352300.1:c.368A>G | NP_001339229.1:p.Asp123Gly | |
| NM_001352301.1:c.281A>G | NP_001339230.1:p.Asp94Gly | |
| NM_001352302.1:c.83A>G | NP_001339231.1:p.Asp28Gly | |
| NM_001352303.1:c.275A>G | NP_001339232.1:p.Asp92Gly | |
| NR_147957.1:n.503A>G | ||
| NM_006440.5:c.371A>G MANE Select | NP_006431.2:p.Asp124Gly | |
| NM_001282512.3:c.371A>G | NP_001269441.1:p.Asp124Gly | |
| NM_001352300.2:c.368A>G | NP_001339229.1:p.Asp123Gly | |
| NR_147957.2:n.329A>G | ||
| NM_001352301.2:c.281A>G | NP_001339230.1:p.Asp94Gly | |
| NM_001352302.2:c.83A>G | NP_001339231.1:p.Asp28Gly | |
| NM_001352303.2:c.275A>G | NP_001339232.1:p.Asp92Gly |