Linked Data
dbSNP Id:
rs13022357
gnomAD v2:
2-160069756-A-G
gnomAD v3:
2-159213245-A-G
gnomAD v4:
2-159213245-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.159213245A>G , CM000664.2:g.159213245A>G | GRCh38 |
| NC_000002.11:g.160069756A>G , CM000664.1:g.160069756A>G | GRCh37 |
| NC_000002.10:g.159778002A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263635.8:c.3245-4252A>G MANE Select | ENSP00000263635.6:n.3245-4252A>G | |
| ENST00000263635.7:c.3245-4252A>G | ENSP00000263635.6:n.3245-4252A>G | |
| ENST00000454300.5:c.1350-17184A>G | ENSP00000396339.2:n.1350-17184A>G | |
| ENST00000470074.1:n.37-4252A>G | ||
| NM_001145909.1:c.3221-4252A>G | NP_001139381.1:n.3221-4252A>G | |
| NM_033394.2:c.3245-4252A>G | NP_203752.2:n.3245-4252A>G | |
| XM_005246918.3:c.3275-4252A>G | XP_005246975.1:n.3275-4252A>G | |
| XM_006712810.2:c.3245-4252A>G | XP_006712873.1:n.3245-4252A>G | |
| XM_006712812.2:c.3140-4252A>G | XP_006712875.1:n.3140-4252A>G | |
| XM_006712814.2:c.2693-4252A>G | XP_006712877.1:n.2693-4252A>G | |
| XM_011512046.1:c.3329-4252A>G | XP_011510348.1:n.3329-4252A>G | |
| XM_011512047.1:c.3326-4252A>G | XP_011510349.1:n.3326-4252A>G | |
| XM_011512048.1:c.3317-4252A>G | XP_011510350.1:n.3317-4252A>G | |
| XM_011512049.1:c.3308-4252A>G | XP_011510351.1:n.3308-4252A>G | |
| XM_011512050.1:c.3305-4252A>G | XP_011510352.1:n.3305-4252A>G | |
| XM_011512051.1:c.3299-4252A>G | XP_011510353.1:n.3299-4252A>G | |
| XM_011512052.1:c.3299-4252A>G | XP_011510354.1:n.3299-4252A>G | |
| XM_011512053.1:c.3299-4252A>G | XP_011510355.1:n.3299-4252A>G | |
| XM_011512054.1:c.3224-4252A>G | XP_011510356.1:n.3224-4252A>G | |
| XM_011512055.1:c.3221-4252A>G | XP_011510357.1:n.3221-4252A>G | |
| XM_011512056.1:c.3065-4252A>G | XP_011510358.1:n.3065-4252A>G | |
| XM_011512057.1:c.3011-4252A>G | XP_011510359.1:n.3011-4252A>G | |
| XM_011512058.1:c.2927-4252A>G | XP_011510360.1:n.2927-4252A>G | |
| XM_011512059.1:c.2753-4252A>G | XP_011510361.1:n.2753-4252A>G | |
| XM_011512060.1:c.2747-4252A>G | XP_011510362.1:n.2747-4252A>G | |
| XM_011512061.1:c.2615-4252A>G | XP_011510363.1:n.2615-4252A>G | |
| XM_011512062.1:c.2324-4252A>G | XP_011510364.1:n.2324-4252A>G | |
| NM_001350062.1:c.2642-4252A>G | NP_001336991.1:n.2642-4252A>G | |
| NM_001350063.1:c.2876-4252A>G | NP_001336992.1:n.2876-4252A>G | |
| NM_001350064.1:c.3224-4252A>G | NP_001336993.1:n.3224-4252A>G | |
| NM_001350065.1:c.3224-4252A>G | NP_001336994.1:n.3224-4252A>G | |
| XM_005246918.4:c.3275-4252A>G | XP_005246975.1:n.3275-4252A>G | |
| XM_006712810.3:c.3245-4252A>G | XP_006712873.1:n.3245-4252A>G | |
| XM_006712812.3:c.3140-4252A>G | XP_006712875.1:n.3140-4252A>G | |
| XM_006712814.3:c.2693-4252A>G | XP_006712877.1:n.2693-4252A>G | |
| XM_011512048.2:c.3317-4252A>G | XP_011510350.1:n.3317-4252A>G | |
| XM_011512051.2:c.3299-4252A>G | XP_011510353.1:n.3299-4252A>G | |
| XM_011512053.2:c.3299-4252A>G | XP_011510355.1:n.3299-4252A>G | |
| XM_011512055.2:c.3221-4252A>G | XP_011510357.1:n.3221-4252A>G | |
| XM_011512058.2:c.2927-4252A>G | XP_011510360.1:n.2927-4252A>G | |
| XM_011512059.2:c.2753-4252A>G | XP_011510361.1:n.2753-4252A>G | |
| XM_011512062.2:c.2324-4252A>G | XP_011510364.1:n.2324-4252A>G | |
| XM_017005141.1:c.3296-4252A>G | XP_016860630.1:n.3296-4252A>G | |
| XM_017005142.1:c.3311-4252A>G | XP_016860631.1:n.3311-4252A>G | |
| XM_017005143.2:c.3311-4252A>G | XP_016860632.1:n.3311-4252A>G | |
| XM_017005144.1:c.3275-4252A>G | XP_016860633.1:n.3275-4252A>G | |
| XM_017005145.1:c.3299-4252A>G | XP_016860634.1:n.3299-4252A>G | |
| XM_017005146.1:c.3278-4252A>G | XP_016860635.1:n.3278-4252A>G | |
| XM_017005149.1:c.3194-4252A>G | XP_016860638.1:n.3194-4252A>G | |
| XM_017005150.1:c.3176-4252A>G | XP_016860639.1:n.3176-4252A>G | |
| XM_017005151.1:c.3035-4252A>G | XP_016860640.1:n.3035-4252A>G | |
| XM_017005152.1:c.3032-4252A>G | XP_016860641.1:n.3032-4252A>G | |
| XM_017005153.1:c.2981-4252A>G | XP_016860642.1:n.2981-4252A>G | |
| XM_017005154.1:c.2981-4252A>G | XP_016860643.1:n.2981-4252A>G | |
| XM_017005156.1:c.2717-4252A>G | XP_016860645.1:n.2717-4252A>G | |
| XM_024453193.1:c.2930-4252A>G | XP_024308961.1:n.2930-4252A>G | |
| XM_024453194.1:c.2696-4252A>G | XP_024308962.1:n.2696-4252A>G | |
| XR_002959352.1:n.3661-4252A>G | ||
| XR_002959353.1:n.3661-4252A>G | ||
| NM_033394.3:c.3245-4252A>G MANE Select | NP_203752.2:n.3245-4252A>G | |
| NM_001145909.2:c.3221-4252A>G | NP_001139381.1:n.3221-4252A>G | |
| NM_001350062.2:c.2642-4252A>G | NP_001336991.1:n.2642-4252A>G | |
| NM_001350063.2:c.2876-4252A>G | NP_001336992.1:n.2876-4252A>G | |
| NM_001350064.2:c.3224-4252A>G | NP_001336993.1:n.3224-4252A>G | |
| NM_001350065.2:c.3224-4252A>G | NP_001336994.1:n.3224-4252A>G |