Linked Data
ClinVar Variation Id:
1147481
ClinVar RCV Id:
RCV001486986
dbSNP Id:
rs375377112
ExAC:
3:193355869 C / T
gnomAD v2:
3-193355869-C-T
gnomAD v3:
3-193638080-C-T
gnomAD v4:
3-193638080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193638080C>T , CM000665.2:g.193638080C>T | GRCh38 |
| NC_000003.11:g.193355869C>T , CM000665.1:g.193355869C>T | GRCh37 |
| NC_000003.10:g.194838563C>T | NCBI36 |
| NG_011605.1:g.49937C>T , LRG_337:g.49937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1149+15C>T MANE Select | ENSP00000355324.2:n.1149+15C>T | |
| ENST00000361828.7:c.984+15C>T | ENSP00000354429.3:n.984+15C>T | |
| ENST00000361908.8:c.1095+15C>T | ENSP00000354681.3:n.1095+15C>T | |
| ENST00000392436.7:c.984+15C>T | ENSP00000376231.3:n.984+15C>T | |
| ENST00000392437.6:c.1038+15C>T | ENSP00000376232.2:n.1038+15C>T | |
| ENST00000642289.1:c.1079+15C>T | ||
| ENST00000642445.1:c.984+15C>T | ENSP00000495535.1:n.984+15C>T | |
| ENST00000642593.1:c.984+15C>T | ENSP00000494273.1:n.984+15C>T | |
| ENST00000643329.1:c.666+15C>T | ENSP00000493673.1:n.666+15C>T | |
| ENST00000643737.1:c.*1065+15C>T | ENSP00000494210.1:n.*1065+15C>T | |
| ENST00000644595.1:c.984+15C>T | ENSP00000494121.1:n.984+15C>T | |
| ENST00000644629.1:c.644+15C>T | ||
| ENST00000644841.1:c.612+15C>T | ENSP00000493988.1:n.612+15C>T | |
| ENST00000644959.1:c.953+15C>T | ||
| ENST00000645553.1:c.999+15C>T | ENSP00000494725.1:n.999+15C>T | |
| ENST00000646085.1:c.*462+15C>T | ENSP00000494509.1:n.*462+15C>T | |
| ENST00000646277.1:c.1149+15C>T | ENSP00000495289.1:n.1149+15C>T | |
| ENST00000646544.1:c.47+15C>T | ||
| ENST00000646699.1:c.1079+15C>T | ||
| ENST00000646793.1:c.876+15C>T | ENSP00000494512.1:n.876+15C>T | |
| ENST00000361150.6:c.987+15C>T | ENSP00000354781.2:n.987+15C>T | |
| ENST00000361510.6:c.1149+15C>T | ENSP00000355324.2:n.1149+15C>T | |
| ENST00000361715.6:c.1041+15C>T | ENSP00000355311.2:n.1041+15C>T | |
| ENST00000361828.6:c.1038+15C>T | ENSP00000354429.2:n.1038+15C>T | |
| ENST00000361908.7:c.1095+15C>T | ENSP00000354681.3:n.1095+15C>T | |
| ENST00000392438.7:c.984+15C>T | ENSP00000376233.3:n.984+15C>T | |
| ENST00000475899.1:n.180+15C>T | ||
| ENST00000497189.5:n.470+15C>T | ||
| NM_015560.2:c.984+15C>T , LRG_337t1:c.984+15C>T | NP_056375.2:n.984+15C>T | |
| NM_130831.2:c.876+15C>T | NP_570844.1:n.876+15C>T | |
| NM_130832.2:c.930+15C>T | NP_570845.1:n.930+15C>T | |
| NM_130833.2:c.987+15C>T | NP_570846.1:n.987+15C>T | |
| NM_130834.2:c.1038+15C>T | NP_570847.2:n.1038+15C>T | |
| NM_130835.2:c.1041+15C>T | NP_570848.1:n.1041+15C>T | |
| NM_130836.2:c.1095+15C>T | NP_570849.2:n.1095+15C>T | |
| NM_130837.2:c.1149+15C>T , LRG_337t2:c.1149+15C>T | NP_570850.2:n.1149+15C>T | |
| XM_011512863.1:c.1149+15C>T | XP_011511165.1:n.1149+15C>T | |
| XM_011512864.1:c.1095+15C>T | XP_011511166.1:n.1095+15C>T | |
| XM_011512865.1:c.1038+15C>T | XP_011511167.1:n.1038+15C>T | |
| XM_011512866.1:c.987+15C>T | XP_011511168.1:n.987+15C>T | |
| XM_011512867.1:c.984+15C>T | XP_011511169.1:n.984+15C>T | |
| XM_011512868.1:c.876+15C>T | XP_011511170.1:n.876+15C>T | |
| XM_011512869.1:c.1149+15C>T | XP_011511171.1:n.1149+15C>T | |
| NM_001354663.1:c.615+15C>T | NP_001341592.1:n.615+15C>T | |
| NM_001354664.1:c.612+15C>T | NP_001341593.1:n.612+15C>T | |
| XR_001740158.2:n.1378+15C>T | ||
| XR_001740159.2:n.1213+15C>T | ||
| NM_001354663.2:c.615+15C>T | NP_001341592.1:n.615+15C>T | |
| NM_001354664.2:c.612+15C>T | NP_001341593.1:n.612+15C>T | |
| NM_130831.3:c.876+15C>T | NP_570844.1:n.876+15C>T | |
| NM_130832.3:c.930+15C>T | NP_570845.1:n.930+15C>T | |
| NM_130834.3:c.1038+15C>T | NP_570847.2:n.1038+15C>T | |
| NM_130836.3:c.1095+15C>T | NP_570849.2:n.1095+15C>T | |
| NM_015560.3:c.984+15C>T | NP_056375.2:n.984+15C>T | |
| NM_130833.3:c.987+15C>T | NP_570846.1:n.987+15C>T | |
| NM_130835.3:c.1041+15C>T | NP_570848.1:n.1041+15C>T | |
| NM_130837.3:c.1149+15C>T MANE Select | NP_570850.2:n.1149+15C>T |