Linked Data
ClinVar Variation Id:
2418079
dbSNP Id:
rs760548186
ExAC:
6:7583467 T / C
gnomAD v2:
6-7583467-T-C
gnomAD v4:
6-7583234-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583234T>C , CM000668.2:g.7583234T>C | GRCh38 |
| NC_000006.11:g.7583467T>C , CM000668.1:g.7583467T>C | GRCh37 |
| NC_000006.10:g.7528466T>C | NCBI36 |
| NG_008803.1:g.46598T>C , LRG_423:g.46598T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4643T>C | ENSP00000518230.1:p.Leu1548Ser | |
| ENST00000379802.8:c.5972T>C MANE Select | ENSP00000369129.3:p.Leu1991Ser | |
| ENST00000379802.7:c.5972T>C | ENSP00000369129.3:p.Leu1991Ser | |
| ENST00000418664.2:c.4175T>C | ENSP00000396591.2:p.Leu1392Ser | |
| NM_001008844.1:c.4175T>C | NP_001008844.1:p.Leu1392Ser | |
| NM_004415.2:c.5972T>C , LRG_423t1:c.5972T>C | NP_004406.2:p.Leu1991Ser | |
| XM_011514323.1:c.4643T>C | XP_011512625.1:p.Leu1548Ser | |
| NM_001008844.2:c.4175T>C | NP_001008844.1:p.Leu1392Ser | |
| NM_001319034.1:c.4643T>C | NP_001305963.1:p.Leu1548Ser | |
| NM_004415.3:c.5972T>C | NP_004406.2:p.Leu1991Ser | |
| NM_004415.4:c.5972T>C MANE Select | NP_004406.2:p.Leu1991Ser | |
| NM_001008844.3:c.4175T>C | NP_001008844.1:p.Leu1392Ser | |
| NM_001319034.2:c.4643T>C | NP_001305963.1:p.Leu1548Ser |