Linked Data
dbSNP Id:
rs1240257353
gnomAD v2:
2-112705001-G-C
gnomAD v3:
2-111947424-G-C
gnomAD v4:
2-111947424-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111947424G>C , CM000664.2:g.111947424G>C | GRCh38 |
| NC_000002.11:g.112705001G>C , CM000664.1:g.112705001G>C | GRCh37 |
| NC_000002.10:g.112421472G>C | NCBI36 |
| NG_011607.1:g.53811G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.614G>C MANE Select | ENSP00000295408.4:p.Ser205Thr | |
| ENST00000295408.8:c.614G>C | ENSP00000295408.4:p.Ser205Thr | |
| ENST00000409780.5:c.86G>C | ENSP00000387277.1:p.Ser29Thr | |
| ENST00000421804.6:c.614G>C | ENSP00000389152.2:p.Ser205Thr | |
| ENST00000439966.5:c.*87G>C | ENSP00000402129.1:n.*87G>C | |
| ENST00000616902.4:c.-602G>C | ENSP00000482824.1:n.-602G>C | |
| NM_006343.2:c.614G>C | NP_006334.2:p.Ser205Thr | |
| XM_005263565.3:c.614G>C | XP_005263622.1:p.Ser205Thr | |
| XM_005263568.3:c.614G>C | XP_005263625.1:p.Ser205Thr | |
| XM_011510490.1:c.425G>C | XP_011508792.1:p.Ser142Thr | |
| XM_005263565.4:c.614G>C | XP_005263622.1:p.Ser205Thr | |
| XM_005263568.4:c.614G>C | XP_005263625.1:p.Ser205Thr | |
| XM_011510490.3:c.425G>C | XP_011508792.1:p.Ser142Thr | |
| XM_017003164.1:c.425G>C | XP_016858653.1:p.Ser142Thr | |
| XM_017003165.2:c.-654G>C | XP_016858654.1:n.-654G>C | |
| NM_006343.3:c.614G>C MANE Select | NP_006334.2:p.Ser205Thr |