Linked Data
dbSNP Id:
rs766110695
ExAC:
4:111539726 A / G
gnomAD v2:
4-111539726-A-G
gnomAD v4:
4-110618570-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110618570A>G , CM000666.2:g.110618570A>G | GRCh38 |
| NC_000004.11:g.111539726A>G , CM000666.1:g.111539726A>G | GRCh37 |
| NC_000004.10:g.111759175A>G | NCBI36 |
| NG_007120.1:g.23783T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613094.5:c.303T>C | ENSP00000484763.2:p.His101= | |
| ENST00000614423.5:c.428T>C | ENSP00000481951.2:p.Met143Thr | |
| ENST00000616641.5:n.496T>C | ||
| ENST00000644488.2:n.500T>C | ||
| ENST00000394595.8:c.509T>C | ENSP00000378095.4:p.Met170Thr | |
| ENST00000644488.1:n.572T>C | ||
| ENST00000644743.1:c.530T>C MANE Select | ENSP00000495061.1:p.Met177Thr | |
| ENST00000645131.1:n.461T>C | ||
| ENST00000306732.7:c.530T>C | ENSP00000304169.3:p.Met177Thr | |
| ENST00000354925.6:c.509T>C | ENSP00000347004.2:p.Met170Thr | |
| ENST00000355080.9:c.371T>C | ENSP00000347192.5:p.Met124Thr | |
| ENST00000394595.7:c.303T>C | ENSP00000378095.3:p.His101= | |
| ENST00000394598.6:c.509T>C | ENSP00000378097.2:p.Met170Thr | |
| ENST00000511837.5:c.509T>C | ENSP00000421454.1:p.Met170Thr | |
| ENST00000556049.1:n.836T>C | ||
| ENST00000607868.1:n.257T>C | ||
| ENST00000613094.4:c.509T>C | ENSP00000484763.1:p.Met170Thr | |
| ENST00000614423.4:c.509T>C | ENSP00000481951.1:p.Met170Thr | |
| ENST00000616641.4:c.371T>C | ENSP00000484909.1:p.Met124Thr | |
| NM_000325.5:c.530T>C | NP_000316.2:p.Met177Thr | |
| NM_001204397.1:c.509T>C | NP_001191326.1:p.Met170Thr | |
| NM_001204398.1:c.509T>C | NP_001191327.1:p.Met170Thr | |
| NM_001204399.1:c.371T>C | NP_001191328.1:p.Met124Thr | |
| NM_153426.2:c.509T>C | NP_700475.1:p.Met170Thr | |
| NM_153427.2:c.371T>C | NP_700476.1:p.Met124Thr | |
| XM_006714235.2:c.509T>C | XP_006714298.1:p.Met170Thr | |
| XM_011532027.1:c.371T>C | XP_011530329.1:p.Met124Thr | |
| XM_024454090.1:c.176T>C | XP_024309858.1:p.Met59Thr | |
| NM_000325.6:c.530T>C MANE Select | NP_000316.2:p.Met177Thr | |
| NM_001204397.2:c.509T>C | NP_001191326.1:p.Met170Thr | |
| NM_153426.3:c.509T>C | NP_700475.1:p.Met170Thr | |
| NM_153427.3:c.371T>C | NP_700476.1:p.Met124Thr |