Linked Data
ClinVar Variation Id:
45956
dbSNP Id:
rs368377560
ExAC:
10:73501675 G / C
gnomAD v2:
10-73501675-G-C
gnomAD v3:
10-71741918-G-C
gnomAD v4:
10-71741918-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71741918G>C , CM000672.2:g.71741918G>C | GRCh38 |
| NC_000010.10:g.73501675G>C , CM000672.1:g.73501675G>C | GRCh37 |
| NC_000010.9:g.73171681G>C | NCBI36 |
| NG_008835.1:g.349972G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4842G>C MANE Select | ENSP00000224721.9:p.Leu1614= | |
| ENST00000224721.10:c.4857G>C | ENSP00000224721.8:p.Leu1619= | |
| ENST00000398792.3:n.1531G>C | ||
| ENST00000622827.4:c.4842G>C | ENSP00000483211.1:p.Leu1614= | |
| NM_022124.5:c.4842G>C | NP_071407.4:p.Leu1614= | |
| XM_006717940.2:c.5037G>C | XP_006718003.1:p.Leu1679= | |
| XM_006717942.2:c.4971G>C | XP_006718005.1:p.Leu1657= | |
| XM_011540039.1:c.5034G>C | XP_011538341.1:p.Leu1678= | |
| XM_011540040.1:c.5031G>C | XP_011538342.1:p.Leu1677= | |
| XM_011540041.1:c.4977G>C | XP_011538343.1:p.Leu1659= | |
| XM_011540042.1:c.5037G>C | XP_011538344.1:p.Leu1679= | |
| XM_011540043.1:c.5037G>C | XP_011538345.1:p.Leu1679= | |
| XM_011540044.1:c.4902G>C | XP_011538346.1:p.Leu1634= | |
| XM_011540045.1:c.5037G>C | XP_011538347.1:p.Leu1679= | |
| XM_011540046.1:c.4497G>C | XP_011538348.1:p.Leu1499= | |
| XM_011540047.1:c.3855G>C | XP_011538349.1:p.Leu1285= | |
| XM_011540048.1:c.5037G>C | XP_011538350.1:p.Leu1679= | |
| XM_011540049.1:c.5037G>C | XP_011538351.1:p.Leu1679= | |
| XM_011540050.1:c.5037G>C | XP_011538352.1:p.Leu1679= | |
| XM_011540051.1:c.5037G>C | XP_011538353.1:p.Leu1679= | |
| XM_011540052.1:c.1365G>C | XP_011538354.1:p.Leu455= | |
| XM_011540053.1:c.5037G>C | XP_011538355.1:p.Leu1679= | |
| XR_945796.1:n.5280G>C | ||
| NM_022124.6:c.4842G>C MANE Select | NP_071407.4:p.Leu1614= |