Linked Data
ClinVar Variation Id:
217569
dbSNP Id:
rs374144275
ExAC:
5:37120408 G / A
gnomAD v2:
5-37120408-G-A
gnomAD v3:
5-37120306-G-A
gnomAD v4:
5-37120306-G-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37120306G>A , CM000667.2:g.37120306G>A | GRCh38 |
| NC_000005.9:g.37120408G>A , CM000667.1:g.37120408G>A | GRCh37 |
| NC_000005.8:g.37156165G>A | NCBI36 |
| NG_032772.1:g.134123C>T | |
| NG_032772.2:g.134123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.9220C>T MANE Select | ENSP00000498265.2:p.Arg3074Ter | |
| ENST00000676160.1:n.1726C>T | ||
| ENST00000425232.6:c.9058C>T | ENSP00000389014.2:p.Arg3020Ter | |
| ENST00000508244.5:c.9058C>T | ENSP00000421690.1:p.Arg3020Ter | |
| ENST00000509849.5:c.6232C>T | ENSP00000426337.1:n.6232C>T | |
| ENST00000512288.5:n.544C>T | ||
| ENST00000514429.5:c.6256C>T | ENSP00000424223.1:p.Arg2086Ter | |
| NM_023073.3:c.9058C>T | NP_075561.3:p.Arg3020Ter | |
| XM_005248345.2:c.9220C>T | XP_005248402.1:p.Arg3074Ter | |
| XM_005248346.2:c.9217C>T | XP_005248403.1:p.Arg3073Ter | |
| XM_005248347.2:c.9217C>T | XP_005248404.1:p.Arg3073Ter | |
| XM_005248349.2:c.9109C>T | XP_005248406.1:p.Arg3037Ter | |
| XM_005248350.2:c.9091C>T | XP_005248407.1:p.Arg3031Ter | |
| XM_005248353.3:c.5863C>T | XP_005248410.1:p.Arg1955Ter | |
| XM_006714489.2:c.9220C>T | XP_006714552.1:p.Arg3074Ter | |
| XM_006714491.2:c.3793C>T | XP_006714554.1:p.Arg1265Ter | |
| XM_011514085.1:c.9220C>T | XP_011512387.1:p.Arg3074Ter | |
| XM_011514086.1:c.9220C>T | XP_011512388.1:p.Arg3074Ter | |
| XM_011514087.1:c.9166C>T | XP_011512389.1:p.Arg3056Ter | |
| XM_011514088.1:c.9112C>T | XP_011512390.1:p.Arg3038Ter | |
| XM_011514089.1:c.9220C>T | XP_011512391.1:p.Arg3074Ter | |
| XM_011514090.1:c.8902C>T | XP_011512392.1:p.Arg2968Ter | |
| XM_011514091.1:c.8548C>T | XP_011512393.1:p.Arg2850Ter | |
| XM_011514094.1:c.6445C>T | XP_011512396.1:p.Arg2149Ter | |
| XR_427661.2:n.9395C>T | ||
| XR_925644.1:n.9395C>T | ||
| XM_005248345.4:c.9220C>T | XP_005248402.1:p.Arg3074Ter | |
| XM_005248346.4:c.9217C>T | XP_005248403.1:p.Arg3073Ter | |
| XM_005248347.4:c.9217C>T | XP_005248404.1:p.Arg3073Ter | |
| XM_005248349.4:c.9109C>T | XP_005248406.1:p.Arg3037Ter | |
| XM_005248350.4:c.9091C>T | XP_005248407.1:p.Arg3031Ter | |
| XM_006714491.3:c.3793C>T | XP_006714554.1:p.Arg1265Ter | |
| XM_011514085.3:c.9220C>T | XP_011512387.1:p.Arg3074Ter | |
| XM_011514086.3:c.9220C>T | XP_011512388.1:p.Arg3074Ter | |
| XM_011514087.2:c.9166C>T | XP_011512389.1:p.Arg3056Ter | |
| XM_011514088.2:c.9112C>T | XP_011512390.1:p.Arg3038Ter | |
| XM_011514089.2:c.9220C>T | XP_011512391.1:p.Arg3074Ter | |
| XM_011514090.3:c.8902C>T | XP_011512392.1:p.Arg2968Ter | |
| XM_011514094.2:c.6445C>T | XP_011512396.1:p.Arg2149Ter | |
| XM_017009760.1:c.9031C>T | XP_016865249.1:p.Arg3011Ter | |
| XM_017009761.2:c.9031C>T | XP_016865250.1:p.Arg3011Ter | |
| XM_017009763.1:c.8227C>T | XP_016865252.1:p.Arg2743Ter | |
| XM_017009765.1:c.8032C>T | XP_016865254.1:p.Arg2678Ter | |
| XM_017009766.1:c.5863C>T | XP_016865255.1:p.Arg1955Ter | |
| XM_024446183.1:c.9031C>T | XP_024301951.1:p.Arg3011Ter | |
| XM_024446184.1:c.8902C>T | XP_024301952.1:p.Arg2968Ter | |
| XM_024446185.1:c.8548C>T | XP_024301953.1:p.Arg2850Ter | |
| XM_024446186.1:c.8227C>T | XP_024301954.1:p.Arg2743Ter | |
| XR_925644.2:n.9444C>T | ||
| NM_001384732.1:c.9220C>T MANE Select | NP_001371661.1:p.Arg3074Ter | |
| NM_023073.4:c.9058C>T | NP_075561.3:p.Arg3020Ter |