Linked Data
ClinVar Variation Id:
127009
ClinVar RCV Id:
RCV000114875
RCV000115780
RCV000123203
RCV000212745
RCV000757930
RCV001358304
RCV000515275
dbSNP Id:
rs104895032
ExAC:
8:90967646 A / G
gnomAD v2:
8-90967646-A-G
gnomAD v3:
8-89955418-A-G
gnomAD v4:
8-89955418-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89955418A>G , CM000670.2:g.89955418A>G | GRCh38 |
| NC_000008.10:g.90967646A>G , CM000670.1:g.90967646A>G | GRCh37 |
| NC_000008.9:g.91036822A>G | NCBI36 |
| NG_008860.1:g.34254T>C , LRG_158:g.34254T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2564T>C | ||
| ENST00000517337.2:c.1016T>C | ENSP00000429971.2:p.Leu339Ser | |
| ENST00000523444.2:c.1016T>C | ENSP00000428252.2:p.Leu339Ser | |
| ENST00000697292.1:c.1262T>C | ENSP00000513229.1:p.Leu421Ser | |
| ENST00000697293.1:c.1262T>C | ENSP00000513230.1:p.Leu421Ser | |
| ENST00000697294.1:c.*873T>C | ENSP00000513231.1:n.*873T>C | |
| ENST00000697295.1:c.*571T>C | ENSP00000513232.1:n.*571T>C | |
| ENST00000697296.1:c.*930T>C | ENSP00000513233.1:n.*930T>C | |
| ENST00000697297.1:n.3047T>C | ||
| ENST00000697298.1:c.1016T>C | ENSP00000513234.1:p.Leu339Ser | |
| ENST00000697299.1:c.1016T>C | ENSP00000513235.1:p.Leu339Ser | |
| ENST00000697300.1:c.*866T>C | ENSP00000513236.1:n.*866T>C | |
| ENST00000697301.1:c.*783T>C | ENSP00000513237.1:n.*783T>C | |
| ENST00000697302.1:c.*783T>C | ENSP00000513238.1:n.*783T>C | |
| ENST00000697303.1:c.*866T>C | ENSP00000513239.1:n.*866T>C | |
| ENST00000697304.1:c.950T>C | ENSP00000513240.1:p.Leu317Ser | |
| ENST00000697306.1:c.*262T>C | ENSP00000513241.1:n.*262T>C | |
| ENST00000697307.1:c.1262T>C | ENSP00000513242.1:p.Leu421Ser | |
| ENST00000697308.1:c.1262T>C | ENSP00000513243.1:p.Leu421Ser | |
| ENST00000697309.1:c.1262T>C | ENSP00000513244.1:p.Leu421Ser | |
| ENST00000697310.1:c.1262T>C | ENSP00000513245.1:p.Leu421Ser | |
| ENST00000697311.1:c.1262T>C | ENSP00000513246.1:p.Leu421Ser | |
| ENST00000697312.1:c.*660T>C | ENSP00000513247.1:n.*660T>C | |
| ENST00000697313.1:n.2687+14946T>C | ||
| ENST00000697314.1:n.3053T>C | ||
| ENST00000697315.1:c.1262T>C | ENSP00000513248.1:p.Leu421Ser | |
| ENST00000697316.1:n.1383T>C | ||
| ENST00000697317.1:n.1372T>C | ||
| ENST00000697318.1:n.1374T>C | ||
| ENST00000265433.8:c.1262T>C MANE Select | ENSP00000265433.4:p.Leu421Ser | |
| ENST00000265433.7:c.1262T>C | ENSP00000265433.3:p.Leu421Ser | |
| ENST00000396252.6:c.*1135T>C | ENSP00000379551.2:n.*1135T>C | |
| ENST00000409330.5:c.1016T>C | ENSP00000386924.1:p.Leu339Ser | |
| NM_001024688.2:c.1016T>C | NP_001019859.1:p.Leu339Ser | |
| NM_002485.4:c.1262T>C , LRG_158t1:c.1262T>C | NP_002476.2:p.Leu421Ser | |
| XM_011517044.1:c.1238T>C | XP_011515346.1:p.Leu413Ser | |
| XM_011517045.1:c.1016T>C | XP_011515347.1:p.Leu339Ser | |
| XM_011517046.1:c.1262T>C | XP_011515348.1:p.Leu421Ser | |
| XR_928335.1:n.1399T>C | ||
| XM_017013460.1:c.383T>C | XP_016868949.1:p.Leu128Ser | |
| XM_017013462.2:c.383T>C | XP_016868951.1:p.Leu128Ser | |
| XM_024447163.1:c.1016T>C | XP_024302931.1:p.Leu339Ser | |
| XM_024447164.1:c.1016T>C | XP_024302932.1:p.Leu339Ser | |
| XM_024447165.1:c.383T>C | XP_024302933.1:p.Leu128Ser | |
| NM_002485.5:c.1262T>C MANE Select | NP_002476.2:p.Leu421Ser | |
| NM_001024688.3:c.1016T>C | NP_001019859.1:p.Leu339Ser |