Linked Data
ClinVar Variation Id:
2249533
ClinVar RCV Id:
RCV004109215
dbSNP Id:
rs142937906
ExAC:
9:130104605 T / A
gnomAD v2:
9-130104605-T-A
gnomAD v3:
9-127342326-T-A
gnomAD v4:
9-127342326-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127342326T>A , CM000671.2:g.127342326T>A | GRCh38 |
| NC_000009.11:g.130104605T>A , CM000671.1:g.130104605T>A | GRCh37 |
| NC_000009.10:g.129144426T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373387.9:c.1243T>A MANE Select | ENSP00000362485.4:p.Leu415Met | |
| ENST00000373386.6:c.1189T>A | ENSP00000362484.2:p.Leu397Met | |
| ENST00000373387.8:c.1243T>A | ENSP00000362485.4:p.Leu415Met | |
| ENST00000435213.6:c.1177T>A | ENSP00000396205.2:p.Leu393Met | |
| ENST00000460176.6:c.12T>A | ||
| NM_001286779.1:c.1177T>A | NP_001273708.1:p.Leu393Met | |
| NM_032293.4:c.1243T>A | NP_115669.3:p.Leu415Met | |
| NR_104591.1:n.1644T>A | ||
| XM_005252267.2:c.1432T>A | XP_005252324.1:p.Leu478Met | |
| XM_005252268.1:c.1312T>A | XP_005252325.1:p.Leu438Met | |
| XM_011519086.1:c.1390T>A | XP_011517388.1:p.Leu464Met | |
| XM_011519087.1:c.1390T>A | XP_011517389.1:p.Leu464Met | |
| XM_011519088.1:c.1390T>A | XP_011517390.1:p.Leu464Met | |
| XM_011519089.1:c.1312T>A | XP_011517391.1:p.Leu438Met | |
| XM_011519090.1:c.736T>A | XP_011517392.1:p.Leu246Met | |
| XM_005252267.3:c.1432T>A | XP_005252324.1:p.Leu478Met | |
| XM_005252268.2:c.1312T>A | XP_005252325.1:p.Leu438Met | |
| XM_011519086.3:c.1390T>A | XP_011517388.1:p.Leu464Met | |
| XM_011519087.2:c.1390T>A | XP_011517389.1:p.Leu464Met | |
| XM_011519089.3:c.1312T>A | XP_011517391.1:p.Leu438Met | |
| XM_011519090.2:c.736T>A | XP_011517392.1:p.Leu246Met | |
| XM_017015202.1:c.1285T>A | XP_016870691.1:p.Leu429Met | |
| XM_024447693.1:c.1312T>A | XP_024303461.1:p.Leu438Met | |
| XM_024447694.1:c.736T>A | XP_024303462.1:p.Leu246Met | |
| XM_024447695.1:c.736T>A | XP_024303463.1:p.Leu246Met | |
| XM_024447696.1:c.736T>A | XP_024303464.1:p.Leu246Met | |
| XM_024447697.1:c.736T>A | XP_024303465.1:p.Leu246Met | |
| XR_001746389.1:n.1499T>A | ||
| NM_032293.5:c.1243T>A MANE Select | NP_115669.3:p.Leu415Met | |
| NM_001286779.2:c.1177T>A | NP_001273708.1:p.Leu393Met | |
| NR_104591.2:n.1347T>A |