Linked Data
dbSNP Id:
rs12504020
gnomAD v2:
4-4524826-T-C
gnomAD v3:
4-4523099-T-C
gnomAD v4:
4-4523099-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4523099T>C , CM000666.2:g.4523099T>C | GRCh38 |
| NC_000004.11:g.4524826T>C , CM000666.1:g.4524826T>C | GRCh37 |
| NC_000004.10:g.4575727T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306200.7:c.168+18698A>G MANE Select | ENSP00000305810.2:n.168+18698A>G | |
| ENST00000306200.6:c.168+18698A>G | ENSP00000305810.2:n.168+18698A>G | |
| ENST00000505286.5:c.168+18698A>G | ENSP00000426648.1:n.168+18698A>G | |
| ENST00000507908.5:c.-76+19061A>G | ENSP00000422376.1:n.-76+19061A>G | |
| ENST00000512780.2:n.235+18698A>G | ||
| NM_016930.2:c.168+18698A>G | NP_058626.1:n.168+18698A>G | |
| XM_011513479.1:c.168+18698A>G | XP_011511781.1:n.168+18698A>G | |
| XM_011513480.1:c.168+18698A>G | XP_011511782.1:n.168+18698A>G | |
| XM_011513481.1:c.168+18698A>G | XP_011511783.1:n.168+18698A>G | |
| XM_011513482.1:c.168+18698A>G | XP_011511784.1:n.168+18698A>G | |
| XM_011513483.1:c.168+18698A>G | XP_011511785.1:n.168+18698A>G | |
| XM_011513485.1:c.-76+19061A>G | XP_011511787.1:n.-76+19061A>G | |
| XR_924956.1:n.231+18698A>G | ||
| XR_924957.1:n.231+18698A>G | ||
| XR_924958.1:n.231+18698A>G | ||
| NM_001346281.1:c.168+18698A>G | NP_001333210.1:n.168+18698A>G | |
| NM_001346282.1:c.-76+19061A>G | NP_001333211.1:n.-76+19061A>G | |
| NM_016930.3:c.168+18698A>G | NP_058626.1:n.168+18698A>G | |
| NR_144414.1:n.270+18698A>G | ||
| XM_017008296.1:c.168+18698A>G | XP_016863785.1:n.168+18698A>G | |
| XM_017008298.1:c.168+18698A>G | XP_016863787.1:n.168+18698A>G | |
| XR_001741239.1:n.231+18698A>G | ||
| XR_001741564.1:n.5344A>G | ||
| NM_016930.4:c.168+18698A>G MANE Select | NP_058626.1:n.168+18698A>G | |
| NM_001346281.2:c.168+18698A>G | NP_001333210.1:n.168+18698A>G | |
| NM_001346282.2:c.-76+19061A>G | NP_001333211.1:n.-76+19061A>G | |
| NR_144414.2:n.252+18698A>G |