Linked Data
dbSNP Id:
rs773589347
ExAC:
7:150761305 T / C
gnomAD v2:
7-150761305-T-C
gnomAD v4:
7-151064218-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151064218T>C , CM000669.2:g.151064218T>C | GRCh38 |
| NC_000007.13:g.150761305T>C , CM000669.1:g.150761305T>C | GRCh37 |
| NC_000007.12:g.150392238T>C | NCBI36 |
| NG_051947.1:g.11019T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413384.7:c.68T>C MANE Select | ENSP00000405600.2:p.Leu23Ser | |
| ENST00000677246.1:c.68T>C | ENSP00000504447.1:p.Leu23Ser | |
| ENST00000310317.9:c.52-387T>C | ENSP00000311402.5:n.52-387T>C | |
| ENST00000392826.6:c.41T>C | ENSP00000376571.2:p.Leu14Ser | |
| ENST00000413384.6:c.68T>C | ENSP00000405600.2:p.Leu23Ser | |
| ENST00000461735.1:c.26T>C | ENSP00000419164.1:p.Leu9Ser | |
| ENST00000463414.5:c.68T>C | ENSP00000418584.1:p.Leu23Ser | |
| ENST00000482950.5:c.68T>C | ENSP00000419379.1:p.Leu23Ser | |
| ENST00000483786.5:c.68T>C | ENSP00000417808.1:p.Leu23Ser | |
| ENST00000485713.5:c.68T>C | ENSP00000419412.1:p.Leu23Ser | |
| ENST00000488420.1:c.68T>C | ENSP00000417221.1:p.Leu23Ser | |
| ENST00000490898.5:c.68T>C | ENSP00000418114.1:p.Leu23Ser | |
| ENST00000494125.1:n.303T>C | ||
| NM_001199692.1:c.68T>C | NP_001186621.1:p.Leu23Ser | |
| NM_001199693.1:c.41T>C | NP_001186622.1:p.Leu14Ser | |
| NM_001199694.1:c.26T>C | NP_001186623.1:p.Leu9Ser | |
| NM_003040.3:c.68T>C | NP_003031.3:p.Leu23Ser | |
| XM_006716094.2:c.68T>C | XP_006716157.1:p.Leu23Ser | |
| XM_011516497.1:c.68T>C | XP_011514799.1:p.Leu23Ser | |
| NM_001199692.2:c.68T>C | NP_001186621.1:p.Leu23Ser | |
| NM_001199694.2:c.26T>C | NP_001186623.1:p.Leu9Ser | |
| XM_006716094.3:c.68T>C | XP_006716157.1:p.Leu23Ser | |
| NM_003040.4:c.68T>C MANE Select | NP_003031.3:p.Leu23Ser | |
| NM_001199692.3:c.68T>C | NP_001186621.1:p.Leu23Ser |