Linked Data
ClinVar Variation Id:
261318
dbSNP Id:
rs72638959
ExAC:
8:41519303 G / A
gnomAD v2:
8-41519303-G-A
gnomAD v3:
8-41661785-G-A
gnomAD v4:
8-41661785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41661785G>A , CM000670.2:g.41661785G>A | GRCh38 |
| NC_000008.10:g.41519303G>A , CM000670.1:g.41519303G>A | GRCh37 |
| NC_000008.9:g.41638460G>A | NCBI36 |
| NG_012820.1:g.239978C>T | |
| NG_012820.2:g.239978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265709.14:c.5667+91C>T | ENSP00000265709.8:n.5667+91C>T | |
| ENST00000522543.6:c.444+16C>T | ENSP00000430368.1:n.444+16C>T | |
| ENST00000705521.1:c.5763+91C>T | ENSP00000516136.1:n.5763+91C>T | |
| ENST00000705522.1:c.5538+49C>T | ENSP00000516137.1:n.5538+49C>T | |
| ENST00000265709.13:c.5667+91C>T | ENSP00000265709.8:n.5667+91C>T | |
| ENST00000289734.13:c.5544+91C>T MANE Select | ENSP00000289734.8:n.5544+91C>T | |
| ENST00000518715.2:n.553+91C>T | ||
| ENST00000645531.1:c.1633+16C>T | ||
| ENST00000265709.12:c.5667+91C>T | ENSP00000265709.8:n.5667+91C>T | |
| ENST00000289734.11:c.5544+91C>T | ENSP00000289734.7:n.5544+91C>T | |
| ENST00000314214.12:c.369+91C>T | ENSP00000319123.8:n.369+91C>T | |
| ENST00000335651.6:c.304-221C>T | ENSP00000335031.6:n.304-221C>T | |
| ENST00000347528.8:c.5619+16C>T | ENSP00000339620.4:n.5619+16C>T | |
| ENST00000348036.8:c.303+1874C>T | ENSP00000297744.5:n.303+1874C>T | |
| ENST00000520299.5:c.3022+91C>T | ||
| ENST00000522231.5:c.369+91C>T | ENSP00000428750.1:n.369+91C>T | |
| ENST00000522543.5:c.444+16C>T | ENSP00000430368.1:n.444+16C>T | |
| ENST00000524227.5:n.3029C>T | ||
| NM_000037.3:c.5544+91C>T | NP_000028.3:n.5544+91C>T | |
| NM_001142445.1:c.444+16C>T | NP_001135917.1:n.444+16C>T | |
| NM_001142446.1:c.5667+91C>T | NP_001135918.1:n.5667+91C>T | |
| NM_020475.2:c.5544+91C>T | NP_065208.2:n.5544+91C>T | |
| NM_020476.2:c.5619+16C>T | NP_065209.2:n.5619+16C>T | |
| NM_020477.2:c.5133+16C>T | NP_065210.2:n.5133+16C>T | |
| NM_020478.4:c.369+91C>T | NP_065211.2:n.369+91C>T | |
| NM_020480.4:c.303+1874C>T | NP_065213.2:n.303+1874C>T | |
| XM_005273476.3:c.5667+91C>T | XP_005273533.1:n.5667+91C>T | |
| XM_011544490.1:c.5883+16C>T | XP_011542792.1:n.5883+16C>T | |
| XM_011544491.1:c.5808+91C>T | XP_011542793.1:n.5808+91C>T | |
| XM_011544492.1:c.5784+16C>T | XP_011542794.1:n.5784+16C>T | |
| XM_011544493.1:c.5850+49C>T | XP_011542795.1:n.5850+49C>T | |
| XM_011544494.1:c.5838+16C>T | XP_011542796.1:n.5838+16C>T | |
| XM_011544495.1:c.5763+91C>T | XP_011542797.1:n.5763+91C>T | |
| XM_011544496.1:c.5808+91C>T | XP_011542798.1:n.5808+91C>T | |
| XM_011544497.1:c.5718+16C>T | XP_011542799.1:n.5718+16C>T | |
| XM_011544498.1:c.5700+16C>T | XP_011542800.1:n.5700+16C>T | |
| XM_011544499.1:c.5742+1874C>T | XP_011542801.1:n.5742+1874C>T | |
| XM_011544500.1:c.5718+16C>T | XP_011542802.1:n.5718+16C>T | |
| XM_011544501.1:c.5643+91C>T | XP_011542803.1:n.5643+91C>T | |
| XM_011544502.1:c.5643+91C>T | XP_011542804.1:n.5643+91C>T | |
| XM_011544503.1:c.5277+91C>T | XP_011542805.1:n.5277+91C>T | |
| XM_011544504.1:c.5232+16C>T | XP_011542806.1:n.5232+16C>T | |
| XM_011544505.1:c.5157+91C>T | XP_011542807.1:n.5157+91C>T | |
| XR_949389.1:n.5474+16C>T | ||
| XM_005273476.4:c.5667+91C>T | XP_005273533.1:n.5667+91C>T | |
| XM_011544490.3:c.5883+16C>T | XP_011542792.1:n.5883+16C>T | |
| XM_011544491.3:c.5808+91C>T | XP_011542793.1:n.5808+91C>T | |
| XM_011544494.3:c.5838+16C>T | XP_011542796.1:n.5838+16C>T | |
| XM_011544495.3:c.5763+91C>T | XP_011542797.1:n.5763+91C>T | |
| XM_011544496.3:c.5808+91C>T | XP_011542798.1:n.5808+91C>T | |
| XM_011544500.2:c.5718+16C>T | XP_011542802.1:n.5718+16C>T | |
| XM_011544501.2:c.5643+91C>T | XP_011542803.1:n.5643+91C>T | |
| XM_011544502.2:c.5643+91C>T | XP_011542804.1:n.5643+91C>T | |
| XM_011544503.3:c.5277+91C>T | XP_011542805.1:n.5277+91C>T | |
| XM_011544504.2:c.5232+16C>T | XP_011542806.1:n.5232+16C>T | |
| XM_011544505.2:c.5157+91C>T | XP_011542807.1:n.5157+91C>T | |
| XM_017013319.2:c.5859+16C>T | XP_016868808.1:n.5859+16C>T | |
| XM_017013320.2:c.5743-221C>T | XP_016868809.1:n.5743-221C>T | |
| XM_017013321.1:c.5796+16C>T | XP_016868810.1:n.5796+16C>T | |
| XM_017013322.1:c.5787+16C>T | XP_016868811.1:n.5787+16C>T | |
| XM_017013323.1:c.5784+16C>T | XP_016868812.1:n.5784+16C>T | |
| XM_017013324.1:c.5742+16C>T | XP_016868813.1:n.5742+16C>T | |
| XM_017013325.1:c.5700+16C>T | XP_016868814.1:n.5700+16C>T | |
| XM_017013326.1:c.5580+91C>T | XP_016868815.1:n.5580+91C>T | |
| XM_017013327.2:c.5397+16C>T | XP_016868816.1:n.5397+16C>T | |
| XM_017013328.2:c.5352+16C>T | XP_016868817.1:n.5352+16C>T | |
| XM_017013329.1:c.5181+91C>T | XP_016868818.1:n.5181+91C>T | |
| XM_024447128.1:c.5688+16C>T | XP_024302896.1:n.5688+16C>T | |
| NM_000037.4:c.5544+91C>T MANE Select | NP_000028.3:n.5544+91C>T | |
| NM_001142445.2:c.444+16C>T | NP_001135917.1:n.444+16C>T | |
| NM_001142446.2:c.5667+91C>T | NP_001135918.1:n.5667+91C>T | |
| NM_020475.3:c.5544+91C>T | NP_065208.2:n.5544+91C>T | |
| NM_020476.3:c.5619+16C>T | NP_065209.2:n.5619+16C>T | |
| NM_020477.3:c.5133+16C>T | NP_065210.2:n.5133+16C>T | |
| NM_020478.5:c.369+91C>T | NP_065211.2:n.369+91C>T | |
| NM_020480.5:c.303+1874C>T | NP_065213.2:n.303+1874C>T |