Linked Data
ClinVar Variation Id:
871036
dbSNP Id:
rs148990138
ExAC:
6:162864403 G / A
gnomAD v2:
6-162864403-G-A
gnomAD v3:
6-162443371-G-A
gnomAD v4:
6-162443371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.162443371G>A , CM000668.2:g.162443371G>A | GRCh38 |
| NC_000006.11:g.162864403G>A , CM000668.1:g.162864403G>A | GRCh37 |
| NC_000006.10:g.162784393G>A | NCBI36 |
| NG_008289.1:g.289432C>T | |
| NG_008289.2:g.289432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.110C>T | ENSP00000343589.4:p.Pro37Leu | |
| ENST00000366894.6:c.110C>T | ENSP00000355860.2:p.Pro37Leu | |
| ENST00000366898.6:c.110C>T MANE Select | ENSP00000355865.1:p.Pro37Leu | |
| ENST00000648830.1:n.277C>T | ||
| ENST00000673871.1:c.105C>T | ||
| ENST00000674232.1:n.128C>T | ||
| ENST00000674259.1:n.167C>T | ||
| ENST00000674493.1:n.127C>T | ||
| ENST00000674501.1:n.217C>T | ||
| ENST00000338468.7:c.-342C>T | ENSP00000343589.3:n.-342C>T | |
| ENST00000366892.5:c.110C>T | ENSP00000355858.1:p.Pro37Leu | |
| ENST00000366894.5:c.-223C>T | ENSP00000355860.1:n.-223C>T | |
| ENST00000366896.5:c.110C>T | ENSP00000355862.1:p.Pro37Leu | |
| ENST00000366897.5:c.110C>T | ENSP00000355863.1:p.Pro37Leu | |
| ENST00000366898.5:c.110C>T | ENSP00000355865.1:p.Pro37Leu | |
| ENST00000479615.5:c.-66-180606C>T | ENSP00000434414.1:n.-66-180606C>T | |
| NM_004562.2:c.110C>T | NP_004553.2:p.Pro37Leu | |
| NM_013987.2:c.110C>T | NP_054642.2:p.Pro37Leu | |
| NM_013988.2:c.110C>T | NP_054643.2:p.Pro37Leu | |
| XM_011535863.1:c.110C>T | XP_011534165.1:p.Pro37Leu | |
| XM_011535864.1:c.110C>T | XP_011534166.1:p.Pro37Leu | |
| XM_011535865.1:c.110C>T | XP_011534167.1:p.Pro37Leu | |
| XM_011535866.1:c.110C>T | XP_011534168.1:p.Pro37Leu | |
| XM_011535867.1:c.110C>T | XP_011534169.1:p.Pro37Leu | |
| XM_017010908.1:c.224C>T | XP_016866397.1:p.Pro75Leu | |
| XM_017010909.2:c.-66-180606C>T | XP_016866398.1:n.-66-180606C>T | |
| XM_024446449.1:c.-66-180606C>T | XP_024302217.1:n.-66-180606C>T | |
| XR_001743443.2:n.216C>T | ||
| NM_004562.3:c.110C>T MANE Select | NP_004553.2:p.Pro37Leu | |
| NM_013987.3:c.110C>T | NP_054642.2:p.Pro37Leu | |
| NM_013988.3:c.110C>T | NP_054643.2:p.Pro37Leu |