Linked Data
dbSNP Id:
rs12455436
gnomAD v2:
18-11892913-T-C
gnomAD v3:
18-11892914-T-C
gnomAD v4:
18-11892914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11892914T>C , CM000680.2:g.11892914T>C | GRCh38 |
| NC_000018.9:g.11892913T>C , CM000680.1:g.11892913T>C | GRCh37 |
| NC_000018.8:g.11882913T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588072.6:c.390+554A>G MANE Select | ENSP00000465894.1:n.390+554A>G | |
| ENST00000309976.13:c.390+554A>G | ENSP00000311200.9:n.390+554A>G | |
| ENST00000317235.11:c.390+554A>G | ENSP00000327257.6:n.390+554A>G | |
| ENST00000317251.8:c.99+554A>G | ENSP00000312935.4:n.99+554A>G | |
| ENST00000344987.11:c.390+554A>G | ENSP00000339423.7:n.390+554A>G | |
| ENST00000496196.5:c.390+554A>G | ENSP00000433950.1:n.390+554A>G | |
| ENST00000586364.1:n.286+554A>G | ||
| ENST00000588072.5:c.390+554A>G | ENSP00000465894.1:n.390+554A>G | |
| ENST00000588186.5:c.390+554A>G | ENSP00000467993.1:n.390+554A>G | |
| ENST00000588191.5:c.390+554A>G | ENSP00000467698.1:n.390+554A>G | |
| ENST00000589267.5:c.390+554A>G | ENSP00000465318.1:n.390+554A>G | |
| ENST00000589731.5:n.704+554A>G | ||
| ENST00000592331.5:c.168+554A>G | ENSP00000466303.1:n.168+554A>G | |
| ENST00000592447.5:n.403+554A>G | ||
| ENST00000592894.5:n.289+554A>G | ||
| ENST00000592977.5:c.390+554A>G | ENSP00000468606.1:n.390+554A>G | |
| NM_001242904.1:c.390+554A>G | NP_001229833.1:n.390+554A>G | |
| NM_023075.5:c.390+554A>G | NP_075563.3:n.390+554A>G | |
| NR_040241.1:n.1186+554A>G | ||
| NR_040242.1:n.1054+554A>G | ||
| NR_040243.1:n.1186+554A>G | ||
| XM_006722340.2:c.390+554A>G | XP_006722403.1:n.390+554A>G | |
| XM_006722341.2:c.390+554A>G | XP_006722404.1:n.390+554A>G | |
| XM_006722342.2:c.390+554A>G | XP_006722405.1:n.390+554A>G | |
| XM_006722343.2:c.390+554A>G | XP_006722406.1:n.390+554A>G | |
| XM_006722345.2:c.390+554A>G | XP_006722408.1:n.390+554A>G | |
| XM_006722346.1:c.390+554A>G | XP_006722409.1:n.390+554A>G | |
| XM_006722347.2:c.390+554A>G | XP_006722410.1:n.390+554A>G | |
| XM_006722348.1:c.390+554A>G | XP_006722411.1:n.390+554A>G | |
| XM_011525731.1:c.390+554A>G | XP_011524033.1:n.390+554A>G | |
| XM_011525732.1:c.390+554A>G | XP_011524034.1:n.390+554A>G | |
| XM_011525733.1:c.390+554A>G | XP_011524035.1:n.390+554A>G | |
| XM_011525734.1:c.390+554A>G | XP_011524036.1:n.390+554A>G | |
| XR_935068.1:n.739+554A>G | ||
| NM_001319154.1:c.390+554A>G | NP_001306083.1:n.390+554A>G | |
| NM_001330563.1:c.390+554A>G | NP_001317492.1:n.390+554A>G | |
| NR_040242.3:n.1054+554A>G | ||
| XM_006722340.3:c.390+554A>G | XP_006722403.1:n.390+554A>G | |
| XM_006722341.4:c.390+554A>G | XP_006722404.1:n.390+554A>G | |
| XM_006722342.4:c.390+554A>G | XP_006722405.1:n.390+554A>G | |
| XM_006722343.3:c.390+554A>G | XP_006722406.1:n.390+554A>G | |
| XM_006722345.4:c.390+554A>G | XP_006722408.1:n.390+554A>G | |
| XM_006722346.3:c.390+554A>G | XP_006722409.1:n.390+554A>G | |
| XM_006722348.2:c.390+554A>G | XP_006722411.1:n.390+554A>G | |
| XM_011525731.3:c.390+554A>G | XP_011524033.1:n.390+554A>G | |
| XM_011525732.2:c.390+554A>G | XP_011524034.1:n.390+554A>G | |
| XM_011525734.2:c.390+554A>G | XP_011524036.1:n.390+554A>G | |
| XM_017025920.2:c.390+554A>G | XP_016881409.1:n.390+554A>G | |
| XM_017025922.2:c.390+554A>G | XP_016881411.1:n.390+554A>G | |
| XM_017025923.2:c.390+554A>G | XP_016881412.1:n.390+554A>G | |
| XM_017025924.2:c.390+554A>G | XP_016881413.1:n.390+554A>G | |
| XM_017025925.1:c.390+554A>G | XP_016881414.1:n.390+554A>G | |
| XM_017025926.2:c.390+554A>G | XP_016881415.1:n.390+554A>G | |
| XM_017025927.2:c.390+554A>G | XP_016881416.1:n.390+554A>G | |
| XM_017025928.1:c.390+554A>G | XP_016881417.1:n.390+554A>G | |
| XM_017025929.2:c.390+554A>G | XP_016881418.1:n.390+554A>G | |
| XM_017025930.2:c.390+554A>G | XP_016881419.1:n.390+554A>G | |
| XM_017025931.1:c.390+554A>G | XP_016881420.1:n.390+554A>G | |
| XM_024451237.1:c.390+554A>G | XP_024307005.1:n.390+554A>G | |
| XR_001753261.1:n.1266+554A>G | ||
| XR_001753262.2:n.1538+554A>G | ||
| XR_001753263.2:n.632+554A>G | ||
| XR_001753264.2:n.736+554A>G | ||
| XR_001753265.2:n.632+554A>G | ||
| XR_002958183.1:n.565+554A>G | ||
| XR_002958184.1:n.632+554A>G | ||
| XR_935068.3:n.736+554A>G | ||
| NM_001242904.2:c.390+554A>G | NP_001229833.1:n.390+554A>G | |
| NM_001319154.2:c.390+554A>G | NP_001306083.1:n.390+554A>G | |
| NM_001330563.2:c.390+554A>G | NP_001317492.1:n.390+554A>G | |
| NM_023075.6:c.390+554A>G MANE Select | NP_075563.3:n.390+554A>G | |
| NR_040241.2:n.706+554A>G | ||
| NR_040242.4:n.574+554A>G | ||
| NR_040243.2:n.706+554A>G |