Linked Data
dbSNP Id:
rs753249875
ExAC:
2:1507771 G / C
gnomAD v2:
2-1507771-G-C
gnomAD v4:
2-1503999-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1503999G>C , CM000664.2:g.1503999G>C | GRCh38 |
| NC_000002.11:g.1507771G>C , CM000664.1:g.1507771G>C | GRCh37 |
| NC_000002.10:g.1486778G>C | NCBI36 |
| NG_011581.1:g.95537G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.2438G>C MANE Select | ENSP00000329869.4:p.Arg813Thr | |
| ENST00000329066.8:c.2438G>C | ENSP00000329869.4:p.Arg813Thr | |
| ENST00000345913.8:c.2438G>C | ENSP00000318820.7:p.Arg813Thr | |
| ENST00000346956.7:c.2386+7234G>C | ENSP00000263886.6:n.2386+7234G>C | |
| ENST00000382198.5:c.1919G>C | ENSP00000371633.1:p.Arg640Thr | |
| ENST00000382201.7:c.2267G>C | ENSP00000371636.3:p.Arg756Thr | |
| ENST00000422464.5:c.2173+7234G>C | ENSP00000405788.1:n.2173+7234G>C | |
| ENST00000425083.3:n.101G>C | ||
| ENST00000446278.5:c.862G>C | ||
| ENST00000462973.5:n.424+9960G>C | ||
| ENST00000469607.3:c.808+7234G>C | ENSP00000419461.1:n.808+7234G>C | |
| ENST00000497517.6:n.729G>C | ||
| NM_000547.5:c.2438G>C | NP_000538.3:p.Arg813Thr | |
| NM_001206744.1:c.2438G>C | NP_001193673.1:p.Arg813Thr | |
| NM_001206745.1:c.2267G>C | NP_001193674.1:p.Arg756Thr | |
| NM_175719.3:c.2267G>C | NP_783650.1:p.Arg756Thr | |
| NM_175721.3:c.2386+7234G>C | NP_783652.1:n.2386+7234G>C | |
| NM_175722.3:c.1919G>C | NP_783653.1:p.Arg640Thr | |
| XM_011510379.1:c.2386+7234G>C | XP_011508681.1:n.2386+7234G>C | |
| XM_011510380.1:c.2438G>C | XP_011508682.1:p.Arg813Thr | |
| XM_011510381.1:c.2215+7234G>C | XP_011508683.1:n.2215+7234G>C | |
| XR_922681.1:n.2439G>C | ||
| XM_011510380.3:c.2474G>C | XP_011508682.2:p.Arg825Thr | |
| XM_024453085.1:c.2422+7234G>C | XP_024308853.1:n.2422+7234G>C | |
| XM_024453086.1:c.2474G>C | XP_024308854.1:p.Arg825Thr | |
| XM_024453087.1:c.2386+7234G>C | XP_024308855.1:n.2386+7234G>C | |
| XM_024453088.1:c.2386+7234G>C | XP_024308856.1:n.2386+7234G>C | |
| XM_024453089.1:c.2386+7234G>C | XP_024308857.1:n.2386+7234G>C | |
| XM_024453090.1:c.2422+7234G>C | XP_024308858.1:n.2422+7234G>C | |
| XM_024453091.1:c.2303G>C | XP_024308859.1:p.Arg768Thr | |
| XM_024453092.1:c.2251+7234G>C | XP_024308860.1:n.2251+7234G>C | |
| XM_024453093.1:c.1955G>C | XP_024308861.1:p.Arg652Thr | |
| NM_001206744.2:c.2438G>C MANE Select | NP_001193673.1:p.Arg813Thr | |
| NM_000547.6:c.2438G>C | NP_000538.3:p.Arg813Thr | |
| NM_001206745.2:c.2267G>C | NP_001193674.1:p.Arg756Thr | |
| NM_175719.4:c.2267G>C | NP_783650.1:p.Arg756Thr |