Linked Data
ClinVar Variation Id:
215275
dbSNP Id:
rs375169579
ExAC:
7:144288512 T / A
gnomAD v2:
7-144288512-T-A
gnomAD v3:
7-144591419-T-A
gnomAD v4:
7-144591419-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144591419T>A , CM000669.2:g.144591419T>A | GRCh38 |
| NC_000007.13:g.144288512T>A , CM000669.1:g.144288512T>A | GRCh37 |
| NC_000007.12:g.143919445T>A | NCBI36 |
| NG_032112.1:g.249635A>T | |
| NG_032112.2:g.249635A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639328.1:c.183+4A>T | ENSP00000491869.1:n.183+4A>T | |
| ENST00000360057.7:c.501+4A>T MANE Select | ENSP00000353165.3:n.501+4A>T | |
| ENST00000378098.8:c.*257+4A>T | ENSP00000367338.4:n.*257+4A>T | |
| ENST00000378099.7:c.354+31747A>T | ENSP00000367339.3:n.354+31747A>T | |
| ENST00000482940.5:c.*426+4A>T | ENSP00000449909.1:n.*426+4A>T | |
| ENST00000538212.6:c.339+31747A>T | ENSP00000438813.2:n.339+31747A>T | |
| ENST00000547966.5:n.399+4A>T | ||
| ENST00000548831.1:n.276A>T | ||
| ENST00000551062.5:n.268+31747A>T | ||
| NM_001042482.1:c.354+31747A>T | NP_001035947.1:n.354+31747A>T | |
| NM_022445.3:c.501+4A>T | NP_071890.2:n.501+4A>T | |
| XM_005249970.1:c.501+4A>T | XP_005250027.1:n.501+4A>T | |
| XM_006715925.2:c.183+4A>T | XP_006715988.1:n.183+4A>T | |
| XM_011516031.1:c.579+4A>T | XP_011514333.1:n.579+4A>T | |
| XM_011516032.1:c.579+4A>T | XP_011514334.1:n.579+4A>T | |
| XM_011516033.1:c.579+4A>T | XP_011514335.1:n.579+4A>T | |
| XM_011516034.1:c.579+4A>T | XP_011514336.1:n.579+4A>T | |
| XM_011516035.1:c.579+4A>T | XP_011514337.1:n.579+4A>T | |
| XM_011516036.1:c.564+4A>T | XP_011514338.1:n.564+4A>T | |
| XM_011516037.1:c.564+4A>T | XP_011514339.1:n.564+4A>T | |
| XM_011516038.1:c.564+4A>T | XP_011514340.1:n.564+4A>T | |
| XM_011516039.1:c.501+4A>T | XP_011514341.1:n.501+4A>T | |
| XM_011516040.1:c.579+4A>T | XP_011514342.1:n.579+4A>T | |
| XM_011516041.1:c.486+4A>T | XP_011514343.1:n.486+4A>T | |
| XM_011516042.1:c.579+4A>T | XP_011514344.1:n.579+4A>T | |
| XM_011516043.1:c.432+31747A>T | XP_011514345.1:n.432+31747A>T | |
| XM_011516044.1:c.339+31747A>T | XP_011514346.1:n.339+31747A>T | |
| XM_011516045.1:c.261+4A>T | XP_011514347.1:n.261+4A>T | |
| XM_011516047.1:c.183+4A>T | XP_011514349.1:n.183+4A>T | |
| XM_011516048.1:c.183+4A>T | XP_011514350.1:n.183+4A>T | |
| XM_011516049.1:c.183+4A>T | XP_011514351.1:n.183+4A>T | |
| XM_011516050.1:c.183+4A>T | XP_011514352.1:n.183+4A>T | |
| XR_927446.1:n.683+4A>T | ||
| XR_927448.1:n.683+4A>T | ||
| XR_927450.1:n.683+4A>T | ||
| XR_927451.1:n.683+4A>T | ||
| XR_927453.1:n.726+4A>T | ||
| NM_001350879.1:c.501+4A>T | NP_001337808.1:n.501+4A>T | |
| NM_001350880.1:c.354+31747A>T | NP_001337809.1:n.354+31747A>T | |
| NM_001350881.1:c.501+4A>T | NP_001337810.1:n.501+4A>T | |
| NM_001350882.1:c.486+4A>T | NP_001337811.1:n.486+4A>T | |
| NM_001350883.1:c.486+4A>T | NP_001337812.1:n.486+4A>T | |
| NM_001350884.1:c.486+4A>T | NP_001337813.1:n.486+4A>T | |
| NM_001350885.1:c.183+4A>T | NP_001337814.1:n.183+4A>T | |
| NM_001350886.1:c.183+4A>T | NP_001337815.1:n.183+4A>T | |
| NM_001350887.1:c.183+4A>T | NP_001337816.1:n.183+4A>T | |
| NM_001350889.1:c.183+4A>T | NP_001337818.1:n.183+4A>T | |
| NM_001350893.1:c.183+4A>T | NP_001337822.1:n.183+4A>T | |
| NM_001350894.1:c.183+4A>T | NP_001337823.1:n.183+4A>T | |
| NM_001350895.1:c.150+4A>T | NP_001337824.1:n.150+4A>T | |
| NR_146934.1:n.398+31747A>T | ||
| NR_146935.1:n.537+31747A>T | ||
| NR_146936.1:n.874+4A>T | ||
| XM_011516032.2:c.579+4A>T | XP_011514334.1:n.579+4A>T | |
| XM_011516033.2:c.579+4A>T | XP_011514335.1:n.579+4A>T | |
| XM_011516034.2:c.579+4A>T | XP_011514336.1:n.579+4A>T | |
| XM_011516035.3:c.579+4A>T | XP_011514337.1:n.579+4A>T | |
| XM_011516037.2:c.564+4A>T | XP_011514339.1:n.564+4A>T | |
| XM_011516039.2:c.501+4A>T | XP_011514341.1:n.501+4A>T | |
| XM_011516040.2:c.579+4A>T | XP_011514342.1:n.579+4A>T | |
| XM_011516047.2:c.183+4A>T | XP_011514349.1:n.183+4A>T | |
| XM_017011969.1:c.579+4A>T | XP_016867458.1:n.579+4A>T | |
| XM_017011970.1:c.564+4A>T | XP_016867459.1:n.564+4A>T | |
| XM_017011971.1:c.564+4A>T | XP_016867460.1:n.564+4A>T | |
| XM_017011972.1:c.579+4A>T | XP_016867461.1:n.579+4A>T | |
| XM_017011974.1:c.501+4A>T | XP_016867463.1:n.501+4A>T | |
| XM_017011975.1:c.501+4A>T | XP_016867464.1:n.501+4A>T | |
| XM_017011980.2:c.261+4A>T | XP_016867469.1:n.261+4A>T | |
| XM_017011981.2:c.261+4A>T | XP_016867470.1:n.261+4A>T | |
| XM_017011982.1:c.183+4A>T | XP_016867471.1:n.183+4A>T | |
| XM_024446715.1:c.339+31747A>T | XP_024302483.1:n.339+31747A>T | |
| XM_024446716.1:c.150+4A>T | XP_024302484.1:n.150+4A>T | |
| XM_024446717.1:c.183+4A>T | XP_024302485.1:n.183+4A>T | |
| XR_001744630.1:n.683+4A>T | ||
| NM_022445.4:c.501+4A>T MANE Select | NP_071890.2:n.501+4A>T | |
| NM_001350884.2:c.486+4A>T | NP_001337813.1:n.486+4A>T | |
| NR_146936.2:n.850+4A>T | ||
| NM_001042482.2:c.354+31747A>T | NP_001035947.1:n.354+31747A>T |