Linked Data
ClinVar Variation Id:
5343
ClinVar RCV Id:
RCV001383029
dbSNP Id:
rs121908426
ExAC:
4:5747048 T / C
gnomAD v2:
4-5747048-T-C
gnomAD v3:
4-5745321-T-C
gnomAD v4:
4-5745321-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5745321T>C , CM000666.2:g.5745321T>C | GRCh38 |
| NC_000004.11:g.5747048T>C , CM000666.1:g.5747048T>C | GRCh37 |
| NC_000004.10:g.5797949T>C | NCBI36 |
| NG_008843.1:g.39125T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264956.11:c.919T>C MANE Select | ENSP00000264956.6:p.Ser307Pro | |
| ENST00000264956.10:c.919T>C | ENSP00000264956.6:p.Ser307Pro | |
| ENST00000509451.1:c.919T>C | ENSP00000426774.1:p.Ser307Pro | |
| NM_001306090.1:c.919T>C | NP_001293019.1:p.Ser307Pro | |
| NM_001306092.1:c.919T>C | NP_001293021.1:p.Ser307Pro | |
| NM_153717.2:c.919T>C | NP_714928.1:p.Ser307Pro | |
| XM_006713865.2:c.919T>C | XP_006713928.1:p.Ser307Pro | |
| XM_006713866.2:c.919T>C | XP_006713929.1:p.Ser307Pro | |
| XM_011513419.1:c.919T>C | XP_011511721.1:p.Ser307Pro | |
| XR_427473.2:n.1109T>C | ||
| XR_427475.2:n.1109T>C | ||
| XR_427476.2:n.1109T>C | ||
| XR_924920.1:n.1109T>C | ||
| XR_924921.1:n.1109T>C | ||
| XR_924922.1:n.1109T>C | ||
| XR_924923.1:n.1109T>C | ||
| XR_924924.1:n.1109T>C | ||
| XR_924925.1:n.1109T>C | ||
| XR_924926.1:n.1109T>C | ||
| XR_924927.1:n.1109T>C | ||
| XR_924928.1:n.1111T>C | ||
| XM_006713865.3:c.919T>C | XP_006713928.1:p.Ser307Pro | |
| XM_006713866.3:c.919T>C | XP_006713929.1:p.Ser307Pro | |
| XM_011513419.2:c.919T>C | XP_011511721.1:p.Ser307Pro | |
| XM_017007883.2:c.919T>C | XP_016863372.1:p.Ser307Pro | |
| XR_001741164.1:n.1099T>C | ||
| XR_001741165.1:n.1099T>C | ||
| XR_001741166.1:n.1099T>C | ||
| XR_001741167.1:n.1099T>C | ||
| XR_001741168.1:n.1099T>C | ||
| XR_001741169.2:n.984-2827T>C | ||
| XR_001741170.1:n.1101T>C | ||
| XR_001741171.1:n.404T>C | ||
| XR_427473.3:n.1099T>C | ||
| XR_427475.3:n.1099T>C | ||
| XR_427476.3:n.1099T>C | ||
| XR_924920.2:n.1099T>C | ||
| XR_924921.2:n.1099T>C | ||
| XR_924922.2:n.1099T>C | ||
| XR_924924.2:n.1099T>C | ||
| XR_924925.2:n.1099T>C | ||
| XR_924926.2:n.1099T>C | ||
| NM_153717.3:c.919T>C MANE Select | NP_714928.1:p.Ser307Pro | |
| NM_001306090.2:c.919T>C | NP_001293019.1:p.Ser307Pro | |
| NM_001306092.2:c.919T>C | NP_001293021.1:p.Ser307Pro |