Linked Data
dbSNP Id:
rs777926506
ExAC:
1:155264301 T / G
gnomAD v2:
1-155264301-T-G
gnomAD v4:
1-155294510-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294510T>G , CM000663.2:g.155294510T>G | GRCh38 |
| NC_000001.10:g.155264301T>G , CM000663.1:g.155264301T>G | GRCh37 |
| NC_000001.9:g.153530925T>G | NCBI36 |
| NG_011677.1:g.11925A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.937A>C MANE Select | ENSP00000339933.4:p.Lys313Gln | |
| ENST00000342741.4:c.937A>C | ENSP00000339933.4:p.Lys313Gln | |
| ENST00000392414.7:c.844A>C | ENSP00000376214.3:p.Lys282Gln | |
| NM_000298.5:c.937A>C | NP_000289.1:p.Lys313Gln | |
| NM_181871.3:c.844A>C | NP_870986.1:p.Lys282Gln | |
| XM_005245266.3:c.1096A>C | XP_005245323.1:p.Lys366Gln | |
| XM_006711386.2:c.745A>C | XP_006711449.1:p.Lys249Gln | |
| XM_011509639.1:c.1096A>C | XP_011507941.1:p.Lys366Gln | |
| XM_011509640.1:c.745A>C | XP_011507942.1:p.Lys249Gln | |
| NM_000298.6:c.937A>C MANE Select | NP_000289.1:p.Lys313Gln | |
| XM_006711386.4:c.745A>C | XP_006711449.1:p.Lys249Gln | |
| XM_011509640.3:c.745A>C | XP_011507942.1:p.Lys249Gln | |
| XM_017001493.1:c.937A>C | XP_016856982.1:p.Lys313Gln | |
| NM_181871.4:c.844A>C | NP_870986.1:p.Lys282Gln |