Linked Data
ClinVar Variation Id:
1629372
ClinVar RCV Id:
RCV002116674
dbSNP Id:
rs756822498
ExAC:
5:37154091 C / A
gnomAD v2:
5-37154091-C-A
gnomAD v4:
5-37153989-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37153989C>A , CM000667.2:g.37153989C>A | GRCh38 |
| NC_000005.9:g.37154091C>A , CM000667.1:g.37154091C>A | GRCh37 |
| NC_000005.8:g.37189848C>A | NCBI36 |
| NG_032772.1:g.100440G>T | |
| NG_032772.2:g.100440G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1123G>T | ||
| ENST00000651892.2:c.8124G>T MANE Select | ENSP00000498265.2:p.Leu2708= | |
| ENST00000425232.6:c.7962G>T | ENSP00000389014.2:p.Leu2654= | |
| ENST00000508244.5:c.7962G>T | ENSP00000421690.1:p.Leu2654= | |
| ENST00000509849.5:c.5136G>T | ENSP00000426337.1:p.Leu1712= | |
| ENST00000509957.5:n.366G>T | ||
| ENST00000511210.5:n.415G>T | ||
| ENST00000511824.2:c.1238G>T | ||
| ENST00000514429.5:c.5160G>T | ENSP00000424223.1:p.Leu1720= | |
| ENST00000515380.1:n.376G>T | ||
| NM_023073.3:c.7962G>T | NP_075561.3:p.Leu2654= | |
| XM_005248345.2:c.8124G>T | XP_005248402.1:p.Leu2708= | |
| XM_005248346.2:c.8121G>T | XP_005248403.1:p.Leu2707= | |
| XM_005248347.2:c.8121G>T | XP_005248404.1:p.Leu2707= | |
| XM_005248349.2:c.8013G>T | XP_005248406.1:p.Leu2671= | |
| XM_005248350.2:c.7995G>T | XP_005248407.1:p.Leu2665= | |
| XM_005248353.3:c.4767G>T | XP_005248410.1:p.Leu1589= | |
| XM_006714489.2:c.8124G>T | XP_006714552.1:p.Leu2708= | |
| XM_006714491.2:c.2697G>T | XP_006714554.1:p.Leu899= | |
| XM_011514085.1:c.8124G>T | XP_011512387.1:p.Leu2708= | |
| XM_011514086.1:c.8124G>T | XP_011512388.1:p.Leu2708= | |
| XM_011514087.1:c.8070G>T | XP_011512389.1:p.Leu2690= | |
| XM_011514088.1:c.8016G>T | XP_011512390.1:p.Leu2672= | |
| XM_011514089.1:c.8124G>T | XP_011512391.1:p.Leu2708= | |
| XM_011514090.1:c.7806G>T | XP_011512392.1:p.Leu2602= | |
| XM_011514091.1:c.7452G>T | XP_011512393.1:p.Leu2484= | |
| XM_011514092.1:c.8124G>T | XP_011512394.1:p.Leu2708= | |
| XM_011514094.1:c.5349G>T | XP_011512396.1:p.Leu1783= | |
| XR_427661.2:n.8299G>T | ||
| XR_925644.1:n.8299G>T | ||
| XM_005248345.4:c.8124G>T | XP_005248402.1:p.Leu2708= | |
| XM_005248346.4:c.8121G>T | XP_005248403.1:p.Leu2707= | |
| XM_005248347.4:c.8121G>T | XP_005248404.1:p.Leu2707= | |
| XM_005248349.4:c.8013G>T | XP_005248406.1:p.Leu2671= | |
| XM_005248350.4:c.7995G>T | XP_005248407.1:p.Leu2665= | |
| XM_006714491.3:c.2697G>T | XP_006714554.1:p.Leu899= | |
| XM_011514085.3:c.8124G>T | XP_011512387.1:p.Leu2708= | |
| XM_011514086.3:c.8124G>T | XP_011512388.1:p.Leu2708= | |
| XM_011514087.2:c.8070G>T | XP_011512389.1:p.Leu2690= | |
| XM_011514088.2:c.8016G>T | XP_011512390.1:p.Leu2672= | |
| XM_011514089.2:c.8124G>T | XP_011512391.1:p.Leu2708= | |
| XM_011514090.3:c.7806G>T | XP_011512392.1:p.Leu2602= | |
| XM_011514092.2:c.8124G>T | XP_011512394.1:p.Leu2708= | |
| XM_011514094.2:c.5349G>T | XP_011512396.1:p.Leu1783= | |
| XM_017009760.1:c.7935G>T | XP_016865249.1:p.Leu2645= | |
| XM_017009761.2:c.7935G>T | XP_016865250.1:p.Leu2645= | |
| XM_017009763.1:c.7131G>T | XP_016865252.1:p.Leu2377= | |
| XM_017009765.1:c.6936G>T | XP_016865254.1:p.Leu2312= | |
| XM_017009766.1:c.4767G>T | XP_016865255.1:p.Leu1589= | |
| XM_024446183.1:c.7935G>T | XP_024301951.1:p.Leu2645= | |
| XM_024446184.1:c.7806G>T | XP_024301952.1:p.Leu2602= | |
| XM_024446185.1:c.7452G>T | XP_024301953.1:p.Leu2484= | |
| XM_024446186.1:c.7131G>T | XP_024301954.1:p.Leu2377= | |
| XR_001742208.1:n.8293G>T | ||
| XR_002956171.1:n.8239G>T | ||
| XR_925644.2:n.8348G>T | ||
| NM_001384732.1:c.8124G>T MANE Select | NP_001371661.1:p.Leu2708= | |
| NM_023073.4:c.7962G>T | NP_075561.3:p.Leu2654= |