COSMIC:
COSM6027404 (not active)
COSM6027405 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02552911 (MID)
Genomes Max Group AF
0.00532069 (AMR)
Exomes Max Group AF
0.02504411 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74060037T>A , CM000669.2:g.74060037T>A | GRCh38 |
| NC_000007.13:g.73474367T>A , CM000669.1:g.73474367T>A | GRCh37 |
| NC_000007.12:g.73112303T>A | NCBI36 |
| NG_009261.1:g.36941T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.1653T>A (ELN) | ENSP00000510104.1:p.Gly551= | |
| ENST00000252034.12:c.1566T>A (ELN) MANE Select | ENSP00000252034.7:p.Gly522= | |
| ENST00000252034.11:c.1566T>A (ELN) | ENSP00000252034.7:p.Gly522= | |
| ENST00000320399.10:c.1566T>A (ELN) | ENSP00000313565.6:p.Gly522= | |
| ENST00000320492.11:c.1323T>A (ELN) | ENSP00000315607.7:p.Gly441= | |
| ENST00000357036.9:c.1581T>A (ELN) | ENSP00000349540.5:p.Gly527= | |
| ENST00000358929.8:c.1653T>A (ELN) | ENSP00000351807.5:p.Gly551= | |
| ENST00000380553.8:c.1158T>A (ELN) | ENSP00000369926.4:p.Gly386= | |
| ENST00000380562.8:c.1584T>A (ELN) | ENSP00000369936.4:p.Gly528= | |
| ENST00000380575.8:c.1479T>A (ELN) | ENSP00000369949.4:p.Gly493= | |
| ENST00000380576.9:c.1509T>A (ELN) | ENSP00000369950.5:p.Gly503= | |
| ENST00000380584.8:c.1467T>A (ELN) | ENSP00000369958.4:p.Gly489= | |
| ENST00000414324.5:c.1494T>A (ELN) | ENSP00000392575.1:p.Gly498= | |
| ENST00000429192.5:c.1524T>A (ELN) | ENSP00000391129.1:p.Gly508= | |
| ENST00000445912.5:c.1566T>A (ELN) | ENSP00000389857.1:p.Gly522= | |
| ENST00000458204.5:c.1536T>A (ELN) | ENSP00000403162.1:p.Gly512= | |
| ENST00000621115.4:c.1299T>A (ELN) | ENSP00000480955.1:p.Gly433= | |
| NM_000501.3:c.1566T>A (ELN) | NP_000492.2:p.Gly522= | |
| NM_001081752.2:c.1479T>A (ELN) | NP_001075221.1:p.Gly493= | |
| NM_001081753.2:c.1524T>A (ELN) | NP_001075222.1:p.Gly508= | |
| NM_001081754.2:c.1581T>A (ELN) | NP_001075223.1:p.Gly527= | |
| NM_001081755.2:c.1509T>A (ELN) | NP_001075224.1:p.Gly503= | |
| NM_001278912.1:c.1566T>A (ELN) | NP_001265841.1:p.Gly522= | |
| NM_001278913.1:c.1323T>A (ELN) | NP_001265842.1:p.Gly441= | |
| NM_001278914.1:c.1494T>A (ELN) | NP_001265843.1:p.Gly498= | |
| NM_001278915.1:c.1584T>A (ELN) | NP_001265844.1:p.Gly528= | |
| NM_001278916.1:c.1467T>A (ELN) | NP_001265845.1:p.Gly489= | |
| NM_001278917.1:c.1536T>A (ELN) | NP_001265846.1:p.Gly512= | |
| NM_001278918.1:c.1299T>A (ELN) | NP_001265847.1:p.Gly433= | |
| NM_001278939.1:c.1653T>A (ELN) | NP_001265868.1:p.Gly551= | |
| XM_005250187.1:c.1530T>A (ELN) | XP_005250244.1:p.Gly510= | |
| XM_005250188.1:c.1524T>A (ELN) | XP_005250245.1:p.Gly508= | |
| XM_011515868.1:c.1581T>A (ELN) | XP_011514170.1:p.Gly527= | |
| XM_011515869.1:c.1551T>A (ELN) | XP_011514171.1:p.Gly517= | |
| XM_011515870.1:c.1545T>A (ELN) | XP_011514172.1:p.Gly515= | |
| XM_011515871.1:c.1539T>A (ELN) | XP_011514173.1:p.Gly513= | |
| XM_011515872.1:c.1527T>A (ELN) | XP_011514174.1:p.Gly509= | |
| XM_011515873.1:c.1524T>A (ELN) | XP_011514175.1:p.Gly508= | |
| XM_011515874.1:c.1515T>A (ELN) | XP_011514176.1:p.Gly505= | |
| XM_011515875.1:c.1500T>A (ELN) | XP_011514177.1:p.Gly500= | |
| XM_011515876.1:c.1581T>A (ELN) | XP_011514178.1:p.Gly527= | |
| XM_011515877.1:c.1470T>A (ELN) | XP_011514179.1:p.Gly490= | |
| XM_005250187.2:c.1530T>A (ELN) | XP_005250244.1:p.Gly510= | |
| XM_005250188.2:c.1524T>A (ELN) | XP_005250245.1:p.Gly508= | |
| XM_011515868.2:c.1581T>A (ELN) | XP_011514170.1:p.Gly527= | |
| XM_011515871.2:c.1539T>A (ELN) | XP_011514173.1:p.Gly513= | |
| XM_011515872.2:c.1527T>A (ELN) | XP_011514174.1:p.Gly509= | |
| XM_011515873.2:c.1524T>A (ELN) | XP_011514175.1:p.Gly508= | |
| XM_011515875.2:c.1500T>A (ELN) | XP_011514177.1:p.Gly500= | |
| XM_011515876.2:c.1581T>A (ELN) | XP_011514178.1:p.Gly527= | |
| XM_011515877.2:c.1470T>A (ELN) | XP_011514179.1:p.Gly490= | |
| XM_017011813.1:c.1494T>A (ELN) | XP_016867302.1:p.Gly498= | |
| XM_017011814.2:c.1482T>A (ELN) | XP_016867303.1:p.Gly494= | |
| XR_001745243.1:n.76-5A>T (ELN-AS1) | ||
| NM_000501.4:c.1566T>A (ELN) MANE Select | NP_000492.2:p.Gly522= | |
| NM_001081752.3:c.1479T>A (ELN) | NP_001075221.1:p.Gly493= | |
| NM_001081753.3:c.1524T>A (ELN) | NP_001075222.1:p.Gly508= | |
| NM_001081754.3:c.1581T>A (ELN) | NP_001075223.1:p.Gly527= | |
| NM_001081755.3:c.1509T>A (ELN) | NP_001075224.1:p.Gly503= | |
| NM_001278912.2:c.1566T>A (ELN) | NP_001265841.1:p.Gly522= | |
| NM_001278913.2:c.1323T>A (ELN) | NP_001265842.1:p.Gly441= | |
| NM_001278914.2:c.1494T>A (ELN) | NP_001265843.1:p.Gly498= | |
| NM_001278915.2:c.1584T>A (ELN) | NP_001265844.1:p.Gly528= | |
| NM_001278916.2:c.1467T>A (ELN) | NP_001265845.1:p.Gly489= | |
| NM_001278917.2:c.1536T>A (ELN) | NP_001265846.1:p.Gly512= | |
| NM_001278918.2:c.1299T>A (ELN) | NP_001265847.1:p.Gly433= | |
| NM_001278939.2:c.1653T>A (ELN) | NP_001265868.1:p.Gly551= |