Linked Data
ClinVar Variation Id:
2163516
ClinVar RCV Id:
RCV003092363
dbSNP Id:
rs888893721
gnomAD v3:
6-73600378-G-A
gnomAD v4:
6-73600378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600378G>A , CM000668.2:g.73600378G>A | GRCh38 |
| NC_000006.11:g.74310101G>A , CM000668.1:g.74310101G>A | GRCh37 |
| NC_000006.10:g.74366822G>A | NCBI36 |
| NG_008272.1:g.58637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1323C>T MANE Select | ENSP00000348019.5:p.Pro441= | |
| ENST00000355773.5:c.1323C>T | ENSP00000348019.5:p.Pro441= | |
| NM_012434.4:c.1323C>T | NP_036566.1:p.Pro441= | |
| XM_005248710.2:c.1272C>T | XP_005248767.1:p.Pro424= | |
| XM_005248711.1:c.1125C>T | XP_005248768.1:p.Pro375= | |
| XM_011535750.1:c.1175C>T | XP_011534052.1:p.Pro392Leu | |
| NM_012434.5:c.1323C>T MANE Select | NP_036566.1:p.Pro441= | |
| NM_001382629.1:c.1092C>T | NP_001369558.1:p.Pro364= | |
| NM_001382630.1:c.1260-5164C>T | NP_001369559.1:n.1260-5164C>T | |
| NM_001382631.1:c.1344C>T | NP_001369560.1:p.Pro448= | |
| NM_001382632.1:c.1236C>T | NP_001369561.1:p.Pro412= | |
| NM_001382633.1:c.1323C>T | NP_001369562.1:p.Pro441= | |
| NM_001382634.1:c.1164C>T | NP_001369563.1:p.Pro388= | |
| NM_001382635.1:c.1320C>T | NP_001369564.1:p.Pro440= | |
| NM_001382636.1:c.1005C>T | NP_001369565.1:p.Pro335= |