Linked Data
dbSNP Id:
rs264651
gnomAD v2:
2-159929431-A-G
gnomAD v3:
2-159072919-A-G
gnomAD v4:
2-159072919-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.159072919A>G , CM000664.2:g.159072919A>G | GRCh38 |
| NC_000002.11:g.159929431A>G , CM000664.1:g.159929431A>G | GRCh37 |
| NC_000002.10:g.159637677A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263635.8:c.61+6948A>G MANE Select | ENSP00000263635.6:n.61+6948A>G | |
| ENST00000263635.7:c.61+6948A>G | ENSP00000263635.6:n.61+6948A>G | |
| ENST00000454300.5:c.-258+6948A>G | ENSP00000396339.2:n.-258+6948A>G | |
| NM_001145909.1:c.61+6948A>G | NP_001139381.1:n.61+6948A>G | |
| NM_033394.2:c.61+6948A>G | NP_203752.2:n.61+6948A>G | |
| XM_005246918.3:c.91+6948A>G | XP_005246975.1:n.91+6948A>G | |
| XM_006712810.2:c.61+6948A>G | XP_006712873.1:n.61+6948A>G | |
| XM_006712812.2:c.61+6948A>G | XP_006712875.1:n.61+6948A>G | |
| XM_006712814.2:c.91+6948A>G | XP_006712877.1:n.91+6948A>G | |
| XM_011512046.1:c.92-3556A>G | XP_011510348.1:n.92-3556A>G | |
| XM_011512047.1:c.92-3556A>G | XP_011510349.1:n.92-3556A>G | |
| XM_011512048.1:c.80-3556A>G | XP_011510350.1:n.80-3556A>G | |
| XM_011512049.1:c.92-3556A>G | XP_011510351.1:n.92-3556A>G | |
| XM_011512050.1:c.92-3556A>G | XP_011510352.1:n.92-3556A>G | |
| XM_011512051.1:c.62-3556A>G | XP_011510353.1:n.62-3556A>G | |
| XM_011512052.1:c.62-3556A>G | XP_011510354.1:n.62-3556A>G | |
| XM_011512053.1:c.62-3556A>G | XP_011510355.1:n.62-3556A>G | |
| XM_011512054.1:c.92-3556A>G | XP_011510356.1:n.92-3556A>G | |
| XM_011512055.1:c.61+6948A>G | XP_011510357.1:n.61+6948A>G | |
| XM_011512056.1:c.92-3556A>G | XP_011510358.1:n.92-3556A>G | |
| XM_011512057.1:c.92-3556A>G | XP_011510359.1:n.92-3556A>G | |
| XM_011512058.1:c.61+6948A>G | XP_011510360.1:n.61+6948A>G | |
| XM_011512060.1:c.92-3556A>G | XP_011510362.1:n.92-3556A>G | |
| NM_001350062.1:c.61+6948A>G | NP_001336991.1:n.61+6948A>G | |
| NM_001350063.1:c.61+6948A>G | NP_001336992.1:n.61+6948A>G | |
| NM_001350064.1:c.61+6948A>G | NP_001336993.1:n.61+6948A>G | |
| NM_001350065.1:c.61+6948A>G | NP_001336994.1:n.61+6948A>G | |
| NR_146421.1:n.335+6948A>G | ||
| XM_005246918.4:c.91+6948A>G | XP_005246975.1:n.91+6948A>G | |
| XM_006712810.3:c.61+6948A>G | XP_006712873.1:n.61+6948A>G | |
| XM_006712812.3:c.61+6948A>G | XP_006712875.1:n.61+6948A>G | |
| XM_006712814.3:c.91+6948A>G | XP_006712877.1:n.91+6948A>G | |
| XM_011512048.2:c.80-3556A>G | XP_011510350.1:n.80-3556A>G | |
| XM_011512051.2:c.62-3556A>G | XP_011510353.1:n.62-3556A>G | |
| XM_011512053.2:c.62-3556A>G | XP_011510355.1:n.62-3556A>G | |
| XM_011512055.2:c.61+6948A>G | XP_011510357.1:n.61+6948A>G | |
| XM_011512058.2:c.61+6948A>G | XP_011510360.1:n.61+6948A>G | |
| XM_017005141.1:c.62-3556A>G | XP_016860630.1:n.62-3556A>G | |
| XM_017005142.1:c.-237+6948A>G | XP_016860631.1:n.-237+6948A>G | |
| XM_017005144.1:c.62-3556A>G | XP_016860633.1:n.62-3556A>G | |
| XM_017005145.1:c.62-3556A>G | XP_016860634.1:n.62-3556A>G | |
| XM_017005146.1:c.62-3556A>G | XP_016860635.1:n.62-3556A>G | |
| XM_017005149.1:c.62-3556A>G | XP_016860638.1:n.62-3556A>G | |
| XM_017005150.1:c.62-3556A>G | XP_016860639.1:n.62-3556A>G | |
| XM_017005151.1:c.62-3556A>G | XP_016860640.1:n.62-3556A>G | |
| XM_017005152.1:c.62-3556A>G | XP_016860641.1:n.62-3556A>G | |
| XM_017005153.1:c.62-3556A>G | XP_016860642.1:n.62-3556A>G | |
| XM_017005154.1:c.61+6948A>G | XP_016860643.1:n.61+6948A>G | |
| XM_017005156.1:c.62-3556A>G | XP_016860645.1:n.62-3556A>G | |
| XM_024453193.1:c.62-3556A>G | XP_024308961.1:n.62-3556A>G | |
| XM_024453194.1:c.62-3556A>G | XP_024308962.1:n.62-3556A>G | |
| XR_002959352.1:n.424-3556A>G | ||
| XR_002959353.1:n.424-3556A>G | ||
| NM_033394.3:c.61+6948A>G MANE Select | NP_203752.2:n.61+6948A>G | |
| NR_146421.2:n.329+6948A>G | ||
| NM_001145909.2:c.61+6948A>G | NP_001139381.1:n.61+6948A>G | |
| NM_001350062.2:c.61+6948A>G | NP_001336991.1:n.61+6948A>G | |
| NM_001350063.2:c.61+6948A>G | NP_001336992.1:n.61+6948A>G | |
| NM_001350064.2:c.61+6948A>G | NP_001336993.1:n.61+6948A>G | |
| NM_001350065.2:c.61+6948A>G | NP_001336994.1:n.61+6948A>G |