Linked Data
ClinVar Variation Id:
3210472
ClinVar RCV Id:
RCV004500896
dbSNP Id:
rs2058129263
gnomAD v3:
15-101489663-G-A
gnomAD v4:
15-101489663-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101489663G>A , CM000677.2:g.101489663G>A | GRCh38 |
| NC_000015.9:g.102029866G>A , CM000677.1:g.102029866G>A | GRCh37 |
| NC_000015.8:g.99847389G>A | NCBI36 |
| NG_030047.3:g.40540C>T | |
| NG_030047.4:g.40540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331826.12:c.8C>T | ENSP00000332052.8:p.Pro3Leu | |
| ENST00000559417.2:c.8C>T | ENSP00000452997.2:p.Pro3Leu | |
| ENST00000611716.5:c.8C>T MANE Select | ENSP00000482760.1:p.Pro3Leu | |
| ENST00000677528.1:c.8C>T | ENSP00000503660.1:p.Pro3Leu | |
| ENST00000331826.11:c.8C>T | ENSP00000332052.8:p.Pro3Leu | |
| ENST00000557794.5:n.123+35417C>T | ||
| ENST00000611716.4:c.8C>T | ENSP00000482760.1:p.Pro3Leu | |
| ENST00000611967.4:c.8C>T | ENSP00000477768.1:p.Pro3Leu | |
| ENST00000615296.4:c.8C>T | ENSP00000478081.1:p.Pro3Leu | |
| ENST00000618548.4:c.8C>T | ENSP00000479496.1:p.Pro3Leu | |
| ENST00000619160.4:c.8C>T | ENSP00000482831.1:p.Pro3Leu | |
| ENST00000622483.4:c.8C>T | ENSP00000481556.1:p.Pro3Leu | |
| NM_001291309.1:c.8C>T | NP_001278238.1:p.Pro3Leu | |
| NM_002570.4:c.8C>T | NP_002561.1:p.Pro3Leu | |
| NM_138319.3:c.8C>T | NP_612192.1:p.Pro3Leu | |
| NM_138322.3:c.8C>T | NP_612195.1:p.Pro3Leu | |
| NM_138323.2:c.8C>T | NP_612196.1:p.Pro3Leu | |
| NM_138324.2:c.8C>T | NP_612197.1:p.Pro3Leu | |
| NM_138325.3:c.8C>T | NP_612198.2:p.Pro3Leu | |
| NM_002570.5:c.8C>T MANE Select | NP_002561.1:p.Pro3Leu | |
| NM_138322.4:c.8C>T | NP_612195.1:p.Pro3Leu | |
| NM_001291309.2:c.8C>T | NP_001278238.1:p.Pro3Leu | |
| NM_138319.4:c.8C>T | NP_612192.1:p.Pro3Leu | |
| NM_138323.3:c.8C>T | NP_612196.1:p.Pro3Leu | |
| NM_138324.3:c.8C>T | NP_612197.1:p.Pro3Leu | |
| NM_138325.4:c.8C>T | NP_612198.2:p.Pro3Leu |