Linked Data
ClinVar Variation Id:
3019974
ClinVar RCV Id:
RCV003875085
dbSNP Id:
rs765675013
ExAC:
15:67073485 T / C
gnomAD v2:
15-67073485-T-C
gnomAD v4:
15-66781147-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781147T>C , CM000677.2:g.66781147T>C | GRCh38 |
| NC_000015.9:g.67073485T>C , CM000677.1:g.67073485T>C | GRCh37 |
| NC_000015.8:g.64860539T>C | NCBI36 |
| NG_012244.1:g.83812T>C | |
| NG_012244.2:g.83812T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1103T>C MANE Select | ENSP00000288840.5:p.Leu368Pro | |
| ENST00000288840.9:c.1103T>C | ENSP00000288840.5:p.Leu368Pro | |
| ENST00000557916.5:c.1235T>C | ENSP00000452955.1:n.1235T>C | |
| ENST00000559931.5:c.407T>C | ENSP00000453446.1:n.407T>C | |
| NM_005585.4:c.1103T>C | NP_005576.3:p.Leu368Pro | |
| NR_027654.1:n.2158T>C | ||
| XM_011521561.1:c.320T>C | XP_011519863.1:p.Leu107Pro | |
| XR_931825.1:n.2502T>C | ||
| XM_011521561.2:c.320T>C | XP_011519863.1:p.Leu107Pro | |
| NM_005585.5:c.1103T>C MANE Select | NP_005576.3:p.Leu368Pro | |
| NR_027654.2:n.2258T>C |