Linked Data
ClinVar Variation Id:
12520
ClinVar RCV Id:
RCV000119102
dbSNP Id:
rs121918710
PubMed:
PMID:15731757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99142683T>G , CM000671.2:g.99142683T>G | GRCh38 |
| NC_000009.11:g.101904965T>G , CM000671.1:g.101904965T>G | GRCh37 |
| NC_000009.10:g.100944786T>G | NCBI36 |
| NG_007461.1:g.42554T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547314.6:c.746T>G | ENSP00000449934.2:p.Met249Arg | |
| ENST00000552573.7:c.758T>G | ENSP00000447182.3:p.Met253Arg | |
| ENST00000548365.6:c.527T>G | ENSP00000448518.2:p.Met176Arg | |
| ENST00000549021.6:c.515T>G | ENSP00000449028.2:p.Met172Arg | |
| ENST00000698941.1:c.758T>G | ENSP00000514048.1:p.Met253Arg | |
| ENST00000698942.1:c.*749T>G | ENSP00000514049.1:n.*749T>G | |
| ENST00000374994.9:c.953T>G MANE Select | ENSP00000364133.4:p.Met318Arg | |
| ENST00000374990.6:c.722T>G | ENSP00000364129.2:p.Met241Arg | |
| ENST00000374994.8:c.953T>G | ENSP00000364133.4:p.Met318Arg | |
| ENST00000549766.5:c.965T>G | ENSP00000446685.1:p.Met322Arg | |
| ENST00000550253.1:c.746T>G | ENSP00000450052.1:p.Met249Arg | |
| ENST00000552516.5:c.965T>G | ENSP00000447297.1:p.Met322Arg | |
| NM_001130916.1:c.722T>G | NP_001124388.1:p.Met241Arg | |
| NM_001130916.2:c.722T>G | NP_001124388.1:p.Met241Arg | |
| NM_001306210.1:c.965T>G | NP_001293139.1:p.Met322Arg | |
| NM_004612.2:c.953T>G | NP_004603.1:p.Met318Arg | |
| NM_004612.3:c.953T>G | NP_004603.1:p.Met318Arg | |
| XM_011518948.1:c.758T>G | XP_011517250.1:p.Met253Arg | |
| XM_011518949.1:c.746T>G | XP_011517251.1:p.Met249Arg | |
| XM_011518950.1:c.515T>G | XP_011517252.1:p.Met172Arg | |
| XM_011518948.2:c.758T>G | XP_011517250.1:p.Met253Arg | |
| XM_011518949.2:c.746T>G | XP_011517251.1:p.Met249Arg | |
| XM_011518950.2:c.515T>G | XP_011517252.1:p.Met172Arg | |
| XM_017015063.1:c.758T>G | XP_016870552.1:p.Met253Arg | |
| XM_024447658.1:c.746T>G | XP_024303426.1:p.Met249Arg | |
| NM_004612.4:c.953T>G MANE Select | NP_004603.1:p.Met318Arg | |
| NM_001130916.3:c.722T>G | NP_001124388.1:p.Met241Arg | |
| NM_001306210.2:c.965T>G | NP_001293139.1:p.Met322Arg |