Linked Data
ClinVar Variation Id:
197574
dbSNP Id:
rs191613017
ExAC:
12:88454677 A / G
gnomAD v2:
12-88454677-A-G
gnomAD v3:
12-88060900-A-G
gnomAD v4:
12-88060900-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88060900A>G , CM000674.2:g.88060900A>G | GRCh38 |
| NC_000012.11:g.88454677A>G , CM000674.1:g.88454677A>G | GRCh37 |
| NC_000012.10:g.86978808A>G | NCBI36 |
| NG_008417.1:g.86317T>C | |
| NG_008417.2:g.86317T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6461T>C | ENSP00000308021.8:p.Leu2154Ser | |
| ENST00000547691.8:c.3736T>C | ||
| ENST00000552810.6:c.6452T>C MANE Select | ENSP00000448012.1:p.Leu2151Ser | |
| ENST00000671777.2:n.231T>C | ||
| ENST00000672414.2:c.*4529-880T>C | ENSP00000500729.1:n.*4529-880T>C | |
| ENST00000672647.1:n.4812T>C | ||
| ENST00000673058.2:c.6452T>C | ENSP00000500665.2:p.Leu2151Ser | |
| ENST00000674889.1:n.3405T>C | ||
| ENST00000674971.1:c.6452T>C | ENSP00000502194.1:p.Leu2151Ser | |
| ENST00000675230.1:c.6431T>C | ENSP00000502503.1:p.Leu2144Ser | |
| ENST00000675408.1:c.6358-880T>C | ENSP00000502298.1:n.6358-880T>C | |
| ENST00000675476.1:c.7313T>C | ENSP00000502161.1:p.Leu2438Ser | |
| ENST00000675628.1:n.6679T>C | ||
| ENST00000675794.1:c.*4623T>C | ENSP00000502841.1:n.*4623T>C | |
| ENST00000675833.1:c.7220T>C | ENSP00000502559.1:p.Leu2407Ser | |
| ENST00000675894.1:n.2757T>C | ||
| ENST00000676074.1:c.6358-880T>C | ENSP00000502079.1:n.6358-880T>C | |
| ENST00000676181.1:n.5380T>C | ||
| ENST00000676190.1:n.891T>C | ||
| ENST00000676363.1:n.12178T>C | ||
| ENST00000309041.11:c.6458T>C | ENSP00000308021.7:p.Leu2153Ser | |
| ENST00000547691.6:c.3632T>C | ENSP00000446905.1:p.Leu1211Ser | |
| ENST00000552810.5:c.6452T>C | ENSP00000448012.1:p.Leu2151Ser | |
| NM_025114.3:c.6452T>C | NP_079390.3:p.Leu2151Ser | |
| XM_011538756.1:c.7322T>C | XP_011537058.1:p.Leu2441Ser | |
| XM_011538757.1:c.7322T>C | XP_011537059.1:p.Leu2441Ser | |
| XM_011538758.1:c.7319T>C | XP_011537060.1:p.Leu2440Ser | |
| XM_011538759.1:c.7313T>C | XP_011537061.1:p.Leu2438Ser | |
| XM_011538760.1:c.7322T>C | XP_011537062.1:p.Leu2441Ser | |
| XM_011538761.1:c.7228-880T>C | XP_011537063.1:n.7228-880T>C | |
| XM_011538762.1:c.6554T>C | XP_011537064.1:p.Leu2185Ser | |
| XM_011538763.1:c.6461T>C | XP_011537065.1:p.Leu2154Ser | |
| XM_011538766.1:c.5783T>C | XP_011537068.1:p.Leu1928Ser | |
| XR_945163.1:n.967+3880A>G | ||
| XM_011538756.3:c.7322T>C | XP_011537058.1:p.Leu2441Ser | |
| XM_011538757.3:c.7322T>C | XP_011537059.1:p.Leu2441Ser | |
| XM_011538758.3:c.7319T>C | XP_011537060.1:p.Leu2440Ser | |
| XM_011538759.2:c.7313T>C | XP_011537061.1:p.Leu2438Ser | |
| XM_011538760.2:c.7322T>C | XP_011537062.1:p.Leu2441Ser | |
| XM_011538761.2:c.7228-880T>C | XP_011537063.1:n.7228-880T>C | |
| XM_011538762.3:c.6554T>C | XP_011537064.1:p.Leu2185Ser | |
| XM_011538763.3:c.6461T>C | XP_011537065.1:p.Leu2154Ser | |
| XM_011538766.3:c.5783T>C | XP_011537068.1:p.Leu1928Ser | |
| XM_017019980.2:c.7313T>C | XP_016875469.1:p.Leu2438Ser | |
| XM_017019981.2:c.7219-880T>C | XP_016875470.1:n.7219-880T>C | |
| XM_017019982.1:c.7322T>C | XP_016875471.1:p.Leu2441Ser | |
| XM_017019983.2:c.6440T>C | XP_016875472.1:p.Leu2147Ser | |
| XR_001748869.1:n.7657T>C | ||
| XR_001748870.2:n.7563-880T>C | ||
| NM_025114.4:c.6452T>C MANE Select | NP_079390.3:p.Leu2151Ser |