Linked Data
dbSNP Id:
rs17025857
gnomAD v2:
3-30681095-A-G
gnomAD v3:
3-30639603-A-G
gnomAD v4:
3-30639603-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30639603A>G , CM000665.2:g.30639603A>G | GRCh38 |
| NC_000003.11:g.30681095A>G , CM000665.1:g.30681095A>G | GRCh37 |
| NC_000003.10:g.30656099A>G | NCBI36 |
| NG_007490.1:g.38102A>G , LRG_779:g.38102A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.95-5144A>G MANE Select | ENSP00000295754.5:n.95-5144A>G | |
| ENST00000672866.1:n.1691-5144A>G | ||
| ENST00000673250.1:n.219-5144A>G | ||
| ENST00000295754.9:c.95-5144A>G | ENSP00000295754.5:n.95-5144A>G | |
| ENST00000359013.4:c.170-5144A>G | ENSP00000351905.4:n.170-5144A>G | |
| NM_001024847.2:c.170-5144A>G , LRG_779t1:c.170-5144A>G | NP_001020018.1:n.170-5144A>G | |
| NM_003242.5:c.95-5144A>G | NP_003233.4:n.95-5144A>G | |
| XM_011534043.1:c.122-5144A>G | XP_011532345.1:n.122-5144A>G | |
| XM_011534044.1:c.47-5144A>G | XP_011532346.1:n.47-5144A>G | |
| XM_011534045.1:c.-11-5144A>G | XP_011532347.1:n.-11-5144A>G | |
| XM_011534043.2:c.122-5144A>G | XP_011532345.1:n.122-5144A>G | |
| XM_011534045.3:c.-11-5144A>G | XP_011532347.1:n.-11-5144A>G | |
| XM_017007106.1:c.-11-5144A>G | XP_016862595.1:n.-11-5144A>G | |
| NM_003242.6:c.95-5144A>G MANE Select | NP_003233.4:n.95-5144A>G |