Linked Data
dbSNP Id:
rs544021279
gnomAD v2:
3-184093408-G-C
gnomAD v3:
3-184375620-G-C
gnomAD v4:
3-184375620-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184375620G>C , CM000665.2:g.184375620G>C | GRCh38 |
| NC_000003.11:g.184093408G>C , CM000665.1:g.184093408G>C | GRCh37 |
| NC_000003.10:g.185576102G>C | NCBI36 |
| NG_012136.1:g.7525C>G | |
| NG_029559.1:g.548G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645603.2:c.562-19C>G (THPO) | ENSP00000494281.2:n.562-19C>G | |
| ENST00000647395.1:c.142-19C>G (THPO) MANE Select | ENSP00000494504.1:n.142-19C>G | |
| ENST00000649095.1:c.562-19C>G (THPO) | ENSP00000497904.1:n.562-19C>G | |
| ENST00000650229.1:c.142-19C>G (THPO) | ENSP00000497233.1:n.142-19C>G | |
| ENST00000204615.11:c.142-19C>G (THPO) | ENSP00000204615.7:n.142-19C>G | |
| ENST00000421442.2:c.142-19C>G (THPO) | ENSP00000411704.2:n.142-19C>G | |
| ENST00000444495.1:c.2106+230913G>C (EIF2B5) | ENSP00000409142.1:n.2106+230913G>C | |
| ENST00000445696.6:c.142-19C>G (THPO) | ENSP00000410763.2:n.142-19C>G | |
| NM_000460.3:c.142-19C>G (THPO) | NP_000451.1:n.142-19C>G | |
| NM_001177597.2:c.142-19C>G (THPO) | NP_001171068.1:n.142-19C>G | |
| NM_001177598.2:c.142-19C>G (THPO) | NP_001171069.1:n.142-19C>G | |
| NM_001289997.1:c.142-19C>G (THPO) | NP_001276926.1:n.142-19C>G | |
| NM_001289998.1:c.142-19C>G (THPO) | NP_001276927.1:n.142-19C>G | |
| NM_001290003.1:c.562-19C>G (THPO) | NP_001276932.1:n.562-19C>G | |
| NM_001290022.1:c.142-19C>G (THPO) | NP_001276951.1:n.142-19C>G | |
| NM_001290026.1:c.142-19C>G (THPO) | NP_001276955.1:n.142-19C>G | |
| NM_001290027.1:c.142-19C>G (THPO) | NP_001276956.1:n.142-19C>G | |
| NM_001290028.1:c.142-19C>G (THPO) | NP_001276957.1:n.142-19C>G | |
| XM_011513113.1:c.562-19C>G (THPO) | XP_011511415.1:n.562-19C>G | |
| NM_000460.4:c.142-19C>G (THPO) MANE Select | NP_000451.1:n.142-19C>G | |
| XM_017007107.1:c.562-19C>G (THPO) | XP_016862596.1:n.562-19C>G |