Linked Data
dbSNP Id:
rs12587742
gnomAD v2:
14-73393391-G-A
gnomAD v3:
14-72926683-G-A
gnomAD v4:
14-72926683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.72926683G>A , CM000676.2:g.72926683G>A | GRCh38 |
| NC_000014.8:g.73393391G>A , CM000676.1:g.73393391G>A | GRCh37 |
| NC_000014.7:g.72463144G>A | NCBI36 |
| NG_047140.1:g.5352G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358377.7:c.-9+140G>A MANE Select | ENSP00000351147.2:n.-9+140G>A | |
| ENST00000353777.7:c.-9+140G>A | ENSP00000345176.3:n.-9+140G>A | |
| ENST00000358377.6:c.-9+140G>A | ENSP00000351147.2:n.-9+140G>A | |
| ENST00000394234.6:c.-209+140G>A | ENSP00000377781.2:n.-209+140G>A | |
| ENST00000505361.5:n.43+140G>A | ||
| ENST00000509153.5:c.-9+140G>A | ENSP00000426178.1:n.-9+140G>A | |
| ENST00000509320.5:c.-9+140G>A | ENSP00000422270.1:n.-9+140G>A | |
| ENST00000514191.5:n.45+140G>A | ||
| ENST00000555042.5:c.-9+140G>A | ENSP00000452131.1:n.-9+140G>A | |
| NM_001163508.1:c.-9+140G>A | NP_001156980.1:n.-9+140G>A | |
| NM_001163509.1:c.-43+140G>A | NP_001156981.1:n.-43+140G>A | |
| NM_015604.3:c.-9+140G>A | NP_056419.2:n.-9+140G>A | |
| NM_181340.2:c.-209+140G>A | NP_851937.1:n.-209+140G>A | |
| NM_181341.2:c.-9+140G>A | NP_851938.2:n.-9+140G>A | |
| XM_005267522.3:c.-9+140G>A | XP_005267579.1:n.-9+140G>A | |
| XM_005267525.3:c.-43+140G>A | XP_005267582.1:n.-43+140G>A | |
| XM_006720114.2:c.-9+140G>A | XP_006720177.1:n.-9+140G>A | |
| NM_001352447.1:c.-650+140G>A | NP_001339376.1:n.-650+140G>A | |
| NM_001352448.1:c.-9+140G>A | NP_001339377.1:n.-9+140G>A | |
| NM_001352449.1:c.-173+140G>A | NP_001339378.1:n.-173+140G>A | |
| NR_147990.1:n.212+140G>A | ||
| XM_017021203.1:c.-9+140G>A | XP_016876692.1:n.-9+140G>A | |
| XM_017021207.1:c.-9+140G>A | XP_016876696.1:n.-9+140G>A | |
| XM_017021208.1:c.-9+140G>A | XP_016876697.1:n.-9+140G>A | |
| XM_017021209.1:c.-9+140G>A | XP_016876698.1:n.-9+140G>A | |
| XM_017021214.1:c.-43+140G>A | XP_016876703.1:n.-43+140G>A | |
| XM_017021215.2:c.-650+140G>A | XP_016876704.1:n.-650+140G>A | |
| NM_001163508.2:c.-9+140G>A | NP_001156980.1:n.-9+140G>A | |
| NM_001163509.2:c.-43+140G>A | NP_001156981.1:n.-43+140G>A | |
| NM_001352447.2:c.-650+140G>A | NP_001339376.1:n.-650+140G>A | |
| NM_001352448.2:c.-9+140G>A | NP_001339377.1:n.-9+140G>A | |
| NM_001352449.2:c.-173+140G>A | NP_001339378.1:n.-173+140G>A | |
| NM_015604.4:c.-9+140G>A MANE Select | NP_056419.2:n.-9+140G>A | |
| NM_181340.3:c.-209+140G>A | NP_851937.1:n.-209+140G>A | |
| NM_181341.3:c.-9+140G>A | NP_851938.2:n.-9+140G>A | |
| NR_147990.2:n.80+140G>A | ||
| NM_001352448.3:c.-9+140G>A | NP_001339377.1:n.-9+140G>A |