Linked Data
ClinVar Variation Id:
427893
ClinVar RCV Id:
RCV000599682
dbSNP Id:
rs770770257
ExAC:
5:37180123 A / C
gnomAD v2:
5-37180123-A-C
gnomAD v3:
5-37180021-A-C
gnomAD v4:
5-37180021-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37180021A>C , CM000667.2:g.37180021A>C | GRCh38 |
| NC_000005.9:g.37180123A>C , CM000667.1:g.37180123A>C | GRCh37 |
| NC_000005.8:g.37215880A>C | NCBI36 |
| NG_032772.1:g.74408T>G | |
| NG_032772.2:g.74408T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425232.7:c.5237T>G | ||
| ENST00000651892.2:c.5733T>G MANE Select | ENSP00000498265.2:p.Tyr1911Ter | |
| ENST00000425232.6:c.5733T>G | ENSP00000389014.2:p.Tyr1911Ter | |
| ENST00000508244.5:c.5733T>G | ENSP00000421690.1:p.Tyr1911Ter | |
| ENST00000509849.5:c.2748T>G | ENSP00000426337.1:p.Tyr916Ter | |
| ENST00000514429.5:c.2877T>G | ENSP00000424223.1:p.Tyr959Ter | |
| NM_023073.3:c.5733T>G | NP_075561.3:p.Tyr1911Ter | |
| XM_005248345.2:c.5733T>G | XP_005248402.1:p.Tyr1911Ter | |
| XM_005248346.2:c.5730T>G | XP_005248403.1:p.Tyr1910Ter | |
| XM_005248347.2:c.5733T>G | XP_005248404.1:p.Tyr1911Ter | |
| XM_005248349.2:c.5730T>G | XP_005248406.1:p.Tyr1910Ter | |
| XM_005248350.2:c.5604T>G | XP_005248407.1:p.Tyr1868Ter | |
| XM_005248353.3:c.2376T>G | XP_005248410.1:p.Tyr792Ter | |
| XM_006714489.2:c.5733T>G | XP_006714552.1:p.Tyr1911Ter | |
| XM_006714491.2:c.309T>G | XP_006714554.1:p.Tyr103Ter | |
| XM_011514085.1:c.5733T>G | XP_011512387.1:p.Tyr1911Ter | |
| XM_011514086.1:c.5733T>G | XP_011512388.1:p.Tyr1911Ter | |
| XM_011514087.1:c.5733T>G | XP_011512389.1:p.Tyr1911Ter | |
| XM_011514088.1:c.5733T>G | XP_011512390.1:p.Tyr1911Ter | |
| XM_011514089.1:c.5733T>G | XP_011512391.1:p.Tyr1911Ter | |
| XM_011514090.1:c.5415T>G | XP_011512392.1:p.Tyr1805Ter | |
| XM_011514091.1:c.5061T>G | XP_011512393.1:p.Tyr1687Ter | |
| XM_011514092.1:c.5733T>G | XP_011512394.1:p.Tyr1911Ter | |
| XM_011514093.1:c.5733T>G | XP_011512395.1:p.Tyr1911Ter | |
| XM_011514094.1:c.2958T>G | XP_011512396.1:p.Tyr986Ter | |
| XR_427661.2:n.5908T>G | ||
| XR_925644.1:n.5908T>G | ||
| XM_005248345.4:c.5733T>G | XP_005248402.1:p.Tyr1911Ter | |
| XM_005248346.4:c.5730T>G | XP_005248403.1:p.Tyr1910Ter | |
| XM_005248347.4:c.5733T>G | XP_005248404.1:p.Tyr1911Ter | |
| XM_005248349.4:c.5730T>G | XP_005248406.1:p.Tyr1910Ter | |
| XM_005248350.4:c.5604T>G | XP_005248407.1:p.Tyr1868Ter | |
| XM_006714491.3:c.309T>G | XP_006714554.1:p.Tyr103Ter | |
| XM_011514085.3:c.5733T>G | XP_011512387.1:p.Tyr1911Ter | |
| XM_011514086.3:c.5733T>G | XP_011512388.1:p.Tyr1911Ter | |
| XM_011514087.2:c.5733T>G | XP_011512389.1:p.Tyr1911Ter | |
| XM_011514088.2:c.5733T>G | XP_011512390.1:p.Tyr1911Ter | |
| XM_011514089.2:c.5733T>G | XP_011512391.1:p.Tyr1911Ter | |
| XM_011514090.3:c.5415T>G | XP_011512392.1:p.Tyr1805Ter | |
| XM_011514092.2:c.5733T>G | XP_011512394.1:p.Tyr1911Ter | |
| XM_011514094.2:c.2958T>G | XP_011512396.1:p.Tyr986Ter | |
| XM_017009760.1:c.5544T>G | XP_016865249.1:p.Tyr1848Ter | |
| XM_017009761.2:c.5544T>G | XP_016865250.1:p.Tyr1848Ter | |
| XM_017009763.1:c.4740T>G | XP_016865252.1:p.Tyr1580Ter | |
| XM_017009765.1:c.4545T>G | XP_016865254.1:p.Tyr1515Ter | |
| XM_017009766.1:c.2376T>G | XP_016865255.1:p.Tyr792Ter | |
| XM_024446183.1:c.5544T>G | XP_024301951.1:p.Tyr1848Ter | |
| XM_024446184.1:c.5415T>G | XP_024301952.1:p.Tyr1805Ter | |
| XM_024446185.1:c.5061T>G | XP_024301953.1:p.Tyr1687Ter | |
| XM_024446186.1:c.4740T>G | XP_024301954.1:p.Tyr1580Ter | |
| XR_001742208.1:n.5957T>G | ||
| XR_002956171.1:n.5957T>G | ||
| XR_925644.2:n.5957T>G | ||
| NM_001384732.1:c.5733T>G MANE Select | NP_001371661.1:p.Tyr1911Ter | |
| NM_023073.4:c.5733T>G | NP_075561.3:p.Tyr1911Ter |