Linked Data
dbSNP Id:
rs749048894
ExAC:
11:48145244 C / T
gnomAD v2:
11-48145244-C-T
gnomAD v3:
11-48123692-C-T
gnomAD v4:
11-48123692-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48123692C>T , CM000673.2:g.48123692C>T | GRCh38 |
| NC_000011.9:g.48145244C>T , CM000673.1:g.48145244C>T | GRCh37 |
| NC_000011.8:g.48101820C>T | NCBI36 |
| NG_012209.1:g.148135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1038C>T | ENSP00000514003.1:p.Gly346= | |
| ENST00000418331.7:c.696C>T MANE Select | ENSP00000400010.2:p.Gly232= | |
| ENST00000418331.6:c.696C>T | ENSP00000400010.2:p.Gly232= | |
| ENST00000440289.6:c.696C>T | ENSP00000409733.2:p.Gly232= | |
| ENST00000527952.1:c.432C>T | ENSP00000435618.1:p.Gly144= | |
| ENST00000613246.4:c.696C>T | ENSP00000477933.1:p.Gly232= | |
| ENST00000615445.4:c.696C>T | ENSP00000479342.1:p.Gly232= | |
| NM_001098503.1:c.696C>T | NP_001091973.1:p.Gly232= | |
| NM_002843.3:c.696C>T | NP_002834.3:p.Gly232= | |
| XM_011520249.1:c.729C>T | XP_011518551.1:p.Gly243= | |
| XR_930883.1:n.1046C>T | ||
| XM_017018083.1:c.774C>T | XP_016873572.1:p.Gly258= | |
| XM_017018084.1:c.717C>T | XP_016873573.1:p.Gly239= | |
| XM_017018085.1:c.648C>T | XP_016873574.1:p.Gly216= | |
| XR_930883.2:n.1105C>T | ||
| NM_002843.4:c.696C>T MANE Select | NP_002834.3:p.Gly232= | |
| NM_001098503.2:c.696C>T | NP_001091973.1:p.Gly232= |