Linked Data
ClinVar Variation Id:
99895
ClinVar RCV Id:
RCV000086338
dbSNP Id:
rs62635657
ExAC:
1:197404205 T / C
gnomAD v2:
1-197404205-T-C
gnomAD v4:
1-197435075-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197435075T>C , CM000663.2:g.197435075T>C | GRCh38 |
| NC_000001.10:g.197404205T>C , CM000663.1:g.197404205T>C | GRCh37 |
| NC_000001.9:g.195670828T>C | NCBI36 |
| NG_008483.1:g.171798T>C | |
| NG_008483.2:g.238614T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.3212T>C MANE Select | ENSP00000356370.3:p.Leu1071Pro | |
| ENST00000638467.1:c.3212T>C | ENSP00000491102.1:p.Leu1071Pro | |
| ENST00000681519.1:c.2093T>C | ENSP00000505267.1:p.Leu698Pro | |
| ENST00000367397.1:c.1355T>C | ENSP00000356367.1:p.Leu452Pro | |
| ENST00000367399.6:c.2876T>C | ENSP00000356369.2:p.Leu959Pro | |
| ENST00000367400.7:c.3212T>C | ENSP00000356370.3:p.Leu1071Pro | |
| ENST00000484075.5:c.3212T>C | ENSP00000433932.1:p.Leu1071Pro | |
| ENST00000535699.5:c.3140T>C | ENSP00000438786.1:p.Leu1047Pro | |
| ENST00000538660.5:c.2129-525T>C | ENSP00000438091.1:n.2129-525T>C | |
| NM_001193640.1:c.2876T>C | NP_001180569.1:p.Leu959Pro | |
| NM_001257965.1:c.3140T>C | NP_001244894.1:p.Leu1047Pro | |
| NM_001257966.1:c.2129-525T>C | NP_001244895.1:n.2129-525T>C | |
| NM_201253.2:c.3212T>C | NP_957705.1:p.Leu1071Pro | |
| NR_047563.1:n.3213T>C | ||
| NR_047564.1:n.3421T>C | ||
| XM_011509365.1:c.3212T>C | XP_011507667.1:p.Leu1071Pro | |
| XM_011509366.1:c.3212T>C | XP_011507668.1:p.Leu1071Pro | |
| XM_011509367.1:c.3212T>C | XP_011507669.1:p.Leu1071Pro | |
| XM_011509368.1:c.2630T>C | XP_011507670.1:p.Leu877Pro | |
| XM_011509369.1:c.1655T>C | XP_011507671.1:p.Leu552Pro | |
| XM_011509365.2:c.3212T>C | XP_011507667.1:p.Leu1071Pro | |
| XM_011509369.2:c.1655T>C | XP_011507671.1:p.Leu552Pro | |
| XM_017000851.1:c.2369T>C | XP_016856340.1:p.Leu790Pro | |
| XM_017000852.1:c.3347T>C | XP_016856341.1:p.Leu1116Pro | |
| NM_201253.3:c.3212T>C MANE Select | NP_957705.1:p.Leu1071Pro | |
| NM_001193640.2:c.2876T>C | NP_001180569.1:p.Leu959Pro | |
| NM_001257965.2:c.3140T>C | NP_001244894.1:p.Leu1047Pro | |
| NR_047563.2:n.3165T>C | ||
| NR_047564.2:n.3373T>C | ||
| NM_001257966.2:c.2129-525T>C | NP_001244895.1:n.2129-525T>C |