Linked Data
ClinVar Variation Id:
4817
ClinVar RCV Id:
RCV000005086
RCV000036505
RCV000524013
RCV000779522
RCV000824766
RCV001089560
RCV001375179
RCV003952342
dbSNP Id:
rs80338848
ExAC:
7:107315496 T / C
gnomAD v2:
7-107315496-T-C
gnomAD v3:
7-107675051-T-C
gnomAD v4:
7-107675051-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107675051T>C , CM000669.2:g.107675051T>C | GRCh38 |
| NC_000007.13:g.107315496T>C , CM000669.1:g.107315496T>C | GRCh37 |
| NC_000007.12:g.107102732T>C | NCBI36 |
| NG_008489.1:g.19417T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.707T>C MANE Select | ENSP00000494017.1:p.Leu236Pro | |
| ENST00000265715.7:c.707T>C | ENSP00000265715.3:p.Leu236Pro | |
| NM_000441.1:c.707T>C | NP_000432.1:p.Leu236Pro | |
| XM_005250425.1:c.707T>C | XP_005250482.1:p.Leu236Pro | |
| XM_006716025.2:c.707T>C | XP_006716088.1:p.Leu236Pro | |
| XM_005250425.2:c.707T>C | XP_005250482.1:p.Leu236Pro | |
| XM_006716025.3:c.707T>C | XP_006716088.1:p.Leu236Pro | |
| XM_017012318.1:c.707T>C | XP_016867807.1:p.Leu236Pro | |
| NM_000441.2:c.707T>C MANE Select | NP_000432.1:p.Leu236Pro |