Linked Data
dbSNP Id:
rs114036696
gnomAD v2:
3-78841361-G-C
gnomAD v3:
3-78792211-G-C
gnomAD v4:
3-78792211-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.78792211G>C , CM000665.2:g.78792211G>C | GRCh38 |
| NC_000003.11:g.78841361G>C , CM000665.1:g.78841361G>C | GRCh37 |
| NC_000003.10:g.78924051G>C | NCBI36 |
| NG_011729.1:g.980699C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464233.6:c.500-45311C>G MANE Select | ENSP00000420321.1:n.500-45311C>G | |
| ENST00000436010.6:c.143-45311C>G | ENSP00000406043.3:n.143-45311C>G | |
| ENST00000464233.5:c.500-45311C>G | ENSP00000420321.1:n.500-45311C>G | |
| ENST00000467549.5:c.383-45311C>G | ENSP00000417992.1:n.383-45311C>G | |
| ENST00000495273.5:c.383-45311C>G | ENSP00000420637.1:n.383-45311C>G | |
| ENST00000618833.4:c.383-45311C>G | ENSP00000477976.1:n.383-45311C>G | |
| ENST00000618846.4:c.143-45311C>G | ENSP00000482448.1:n.143-45311C>G | |
| NM_001145845.1:c.383-45311C>G | NP_001139317.1:n.383-45311C>G | |
| NM_002941.3:c.500-45311C>G | NP_002932.1:n.500-45311C>G | |
| NM_133631.3:c.383-45311C>G | NP_598334.2:n.383-45311C>G | |
| XM_006713276.2:c.386-45311C>G | XP_006713339.1:n.386-45311C>G | |
| XM_006713277.2:c.383-45311C>G | XP_006713340.1:n.383-45311C>G | |
| XM_011533976.1:c.500-45311C>G | XP_011532278.1:n.500-45311C>G | |
| XM_011533977.1:c.500-45311C>G | XP_011532279.1:n.500-45311C>G | |
| XM_011533978.1:c.500-45311C>G | XP_011532280.1:n.500-45311C>G | |
| XM_011533979.1:c.500-45311C>G | XP_011532281.1:n.500-45311C>G | |
| XM_011533980.1:c.500-45311C>G | XP_011532282.1:n.500-45311C>G | |
| XM_006713277.3:c.383-45311C>G | XP_006713340.1:n.383-45311C>G | |
| XM_011533977.2:c.500-45311C>G | XP_011532279.1:n.500-45311C>G | |
| XM_017006982.1:c.416-45311C>G | XP_016862471.1:n.416-45311C>G | |
| XM_017006983.2:c.383-45311C>G | XP_016862472.1:n.383-45311C>G | |
| XM_017006984.1:c.500-45311C>G | XP_016862473.1:n.500-45311C>G | |
| XM_017006985.1:c.143-45311C>G | XP_016862474.1:n.143-45311C>G | |
| NM_002941.4:c.500-45311C>G MANE Select | NP_002932.1:n.500-45311C>G | |
| NM_001145845.2:c.383-45311C>G | NP_001139317.1:n.383-45311C>G | |
| NM_133631.4:c.383-45311C>G | NP_598334.2:n.383-45311C>G |