Linked Data
dbSNP Id:
rs12656106
gnomAD v2:
5-142808947-G-C
gnomAD v3:
5-143429382-G-C
gnomAD v4:
5-143429382-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143429382G>C , CM000667.2:g.143429382G>C | GRCh38 |
| NC_000005.9:g.142808947G>C , CM000667.1:g.142808947G>C | GRCh37 |
| NC_000005.8:g.142789140G>C | NCBI36 |
| NG_009062.1:g.11131C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343796.6:c.-14+5150C>G | ENSP00000343205.2:n.-14+5150C>G | |
| ENST00000503701.1:n.352+4337C>G | ||
| ENST00000504572.5:c.-14+4337C>G | ENSP00000422518.1:n.-14+4337C>G | |
| ENST00000505058.5:n.241+5150C>G | ||
| NM_001018074.1:c.-14+5822C>G | NP_001018084.1:n.-14+5822C>G | |
| NM_001018075.1:c.-14+5919C>G | NP_001018085.1:n.-14+5919C>G | |
| NM_001018077.1:c.-14+5150C>G | NP_001018087.1:n.-14+5150C>G | |
| XM_005268422.2:c.-14+5150C>G | XP_005268479.1:n.-14+5150C>G | |
| XM_005268422.3:c.-14+5150C>G | XP_005268479.1:n.-14+5150C>G | |
| NM_001364183.1:c.-14+4337C>G | NP_001351112.1:n.-14+4337C>G | |
| NM_001364183.2:c.-14+4337C>G | NP_001351112.1:n.-14+4337C>G |