Linked Data
ClinVar Variation Id:
634618
dbSNP Id:
rs773402627
ExAC:
2:25965088 A / G
gnomAD v2:
2-25965088-A-G
gnomAD v4:
2-25742219-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742219A>G , CM000664.2:g.25742219A>G | GRCh38 |
| NC_000002.11:g.25965088A>G , CM000664.1:g.25965088A>G | GRCh37 |
| NC_000002.10:g.25818592A>G | NCBI36 |
| NG_052995.1:g.141298T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.4115T>C | ENSP00000337250.5:p.Met1372Thr | |
| ENST00000435504.9:c.4118T>C MANE Select | ENSP00000391447.3:p.Met1373Thr | |
| ENST00000336112.8:c.4034T>C | ENSP00000337250.4:p.Met1345Thr | |
| ENST00000404843.5:c.2567T>C | ENSP00000383920.1:p.Met856Thr | |
| ENST00000435504.8:c.4118T>C | ENSP00000391447.3:p.Met1373Thr | |
| NM_018263.4:c.4118T>C | NP_060733.4:p.Met1373Thr | |
| XM_006712039.2:c.3752T>C | XP_006712102.1:p.Met1251Thr | |
| XM_006712040.1:c.3338T>C | XP_006712103.1:p.Met1113Thr | |
| XM_011532950.1:c.4115T>C | XP_011531252.1:p.Met1372Thr | |
| XM_011532951.1:c.3944T>C | XP_011531253.1:p.Met1315Thr | |
| NM_018263.5:c.4118T>C | NP_060733.4:p.Met1373Thr | |
| XM_006712039.3:c.3752T>C | XP_006712102.1:p.Met1251Thr | |
| XM_006712040.2:c.3338T>C | XP_006712103.1:p.Met1113Thr | |
| XM_011532950.3:c.4115T>C | XP_011531252.1:p.Met1372Thr | |
| XM_011532951.2:c.3944T>C | XP_011531253.1:p.Met1315Thr | |
| XM_017004430.1:c.3338T>C | XP_016859919.1:p.Met1113Thr | |
| XM_024452974.1:c.4298T>C | XP_024308742.1:p.Met1433Thr | |
| NM_001369346.1:c.3944T>C | NP_001356275.1:p.Met1315Thr | |
| NM_001369347.1:c.3338T>C | NP_001356276.1:p.Met1113Thr | |
| NM_018263.6:c.4118T>C MANE Select | NP_060733.4:p.Met1373Thr |