Linked Data
dbSNP Id:
rs2072649
gnomAD v2:
15-74710485-G-C
gnomAD v3:
15-74418144-G-C
gnomAD v4:
15-74418144-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74418144G>C , CM000677.2:g.74418144G>C | GRCh38 |
| NC_000015.9:g.74710485G>C , CM000677.1:g.74710485G>C | GRCh37 |
| NC_000015.8:g.72497538G>C | NCBI36 |
| NG_011733.1:g.20815C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261918.9:c.372+124C>G MANE Select | ENSP00000261918.4:n.372+124C>G | |
| ENST00000542748.6:c.-124+124C>G | ENSP00000441493.1:n.-124+124C>G | |
| ENST00000261918.8:c.372+124C>G | ENSP00000261918.4:n.372+124C>G | |
| ENST00000542748.5:c.-124+124C>G | ENSP00000441493.1:n.-124+124C>G | |
| ENST00000543145.6:c.331-175C>G | ENSP00000438966.2:n.331-175C>G | |
| ENST00000567345.1:c.-124+124C>G | ENSP00000454365.1:n.-124+124C>G | |
| NM_001146029.1:c.331-175C>G | NP_001139501.1:n.331-175C>G | |
| NM_001146030.1:c.-124+124C>G | NP_001139502.1:n.-124+124C>G | |
| NM_003612.3:c.372+124C>G | NP_003603.1:n.372+124C>G | |
| NM_001146029.2:c.331-175C>G | NP_001139501.1:n.331-175C>G | |
| NM_001146030.2:c.-124+124C>G | NP_001139502.1:n.-124+124C>G | |
| NM_003612.4:c.372+124C>G | NP_003603.1:n.372+124C>G | |
| NM_003612.5:c.372+124C>G MANE Select | NP_003603.1:n.372+124C>G | |
| NM_001146029.3:c.331-175C>G | NP_001139501.1:n.331-175C>G | |
| NM_001146030.3:c.-124+124C>G | NP_001139502.1:n.-124+124C>G |