Linked Data
dbSNP Id:
rs769407
gnomAD v2:
2-171693708-G-C
gnomAD v3:
2-170837198-G-C
gnomAD v4:
2-170837198-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170837198G>C , CM000664.2:g.170837198G>C | GRCh38 |
| NC_000002.11:g.171693708G>C , CM000664.1:g.171693708G>C | GRCh37 |
| NC_000002.10:g.171401954G>C | NCBI36 |
| NG_021477.1:g.25509G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358196.8:c.638+315G>C MANE Select | ENSP00000350928.3:n.638+315G>C | |
| ENST00000344257.9:c.638+315G>C | ENSP00000341167.5:n.638+315G>C | |
| ENST00000358196.7:c.638+315G>C | ENSP00000350928.3:n.638+315G>C | |
| ENST00000375272.5:c.638+315G>C | ENSP00000364421.1:n.638+315G>C | |
| ENST00000414527.6:c.638+315G>C | ENSP00000403849.1:n.638+315G>C | |
| ENST00000429023.1:n.619+315G>C | ||
| ENST00000493875.5:c.638+315G>C | ENSP00000434696.1:n.638+315G>C | |
| ENST00000625689.2:c.638+315G>C | ENSP00000486612.1:n.638+315G>C | |
| NM_000817.2:c.638+315G>C | NP_000808.2:n.638+315G>C | |
| NM_013445.3:c.638+315G>C | NP_038473.2:n.638+315G>C | |
| XM_005246444.2:c.638+315G>C | XP_005246501.1:n.638+315G>C | |
| XM_011510922.1:c.638+315G>C | XP_011509224.1:n.638+315G>C | |
| XM_005246444.3:c.638+315G>C | XP_005246501.1:n.638+315G>C | |
| XM_017003756.1:c.638+315G>C | XP_016859245.1:n.638+315G>C | |
| XM_017003757.2:c.638+315G>C | XP_016859246.1:n.638+315G>C | |
| XM_017003758.2:c.638+315G>C | XP_016859247.1:n.638+315G>C | |
| NM_000817.3:c.638+315G>C MANE Select | NP_000808.2:n.638+315G>C | |
| NM_013445.4:c.638+315G>C | NP_038473.2:n.638+315G>C |