Linked Data
ClinVar Variation Id:
412398
dbSNP Id:
rs750380279
gnomAD v2:
5-218472-T-C
gnomAD v4:
5-218357-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.218357T>C , CM000667.2:g.218357T>C | GRCh38 |
| NC_000005.9:g.218472T>C , CM000667.1:g.218472T>C | GRCh37 |
| NC_000005.8:g.271472T>C | NCBI36 |
| NG_012339.1:g.5117T>C | |
| NG_033064.1:g.4826A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.2T>C MANE Select | ENSP00000264932.6:p.Met1Thr | |
| ENST00000651543.1:c.2T>C | ENSP00000499215.1:p.Met1Thr | |
| ENST00000264932.10:c.2T>C | ENSP00000264932.6:p.Met1Thr | |
| ENST00000502379.5:n.47T>C | ||
| ENST00000504309.5:c.2T>C | ENSP00000426514.1:p.Met1Thr | |
| ENST00000505555.5:n.42T>C | ||
| ENST00000509632.5:c.2T>C | ENSP00000425077.1:p.Met1Thr | |
| ENST00000510361.5:c.2T>C | ENSP00000427703.1:p.Met1Thr | |
| ENST00000617470.4:c.2T>C | ENSP00000484230.1:p.Met1Thr | |
| NM_001294332.1:c.2T>C | NP_001281261.1:p.Met1Thr | |
| NM_004168.3:c.2T>C | NP_004159.2:p.Met1Thr | |
| XM_005248331.2:c.2T>C | XP_005248388.1:p.Met1Thr | |
| XM_011514072.1:c.2T>C | XP_011512374.1:p.Met1Thr | |
| XM_011514073.1:c.2T>C | XP_011512375.1:p.Met1Thr | |
| XR_925638.1:n.135T>C | ||
| NM_001330758.1:c.2T>C | NP_001317687.1:p.Met1Thr | |
| XM_011514072.2:c.2T>C | XP_011512374.1:p.Met1Thr | |
| XM_011514073.2:c.2T>C | XP_011512375.1:p.Met1Thr | |
| XM_017009685.2:c.2T>C | XP_016865174.1:p.Met1Thr | |
| XM_024446143.1:c.2T>C | XP_024301911.1:p.Met1Thr | |
| XR_002956167.1:n.49T>C | ||
| NM_004168.4:c.2T>C MANE Select | NP_004159.2:p.Met1Thr | |
| NM_001294332.2:c.2T>C | NP_001281261.1:p.Met1Thr | |
| NM_001330758.2:c.2T>C | NP_001317687.1:p.Met1Thr |