Linked Data
ClinVar Variation Id:
363041
dbSNP Id:
rs373060967
ExAC:
8:41580676 C / T
gnomAD v2:
8-41580676-C-T
gnomAD v3:
8-41723158-C-T
gnomAD v4:
8-41723158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41723158C>T , CM000670.2:g.41723158C>T | GRCh38 |
| NC_000008.10:g.41580676C>T , CM000670.1:g.41580676C>T | GRCh37 |
| NC_000008.9:g.41699833C>T | NCBI36 |
| NG_012820.1:g.178605G>A | |
| NG_012820.2:g.178605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265709.14:c.975G>A | ENSP00000265709.8:p.Leu325= | |
| ENST00000705521.1:c.1071G>A | ENSP00000516136.1:p.Leu357= | |
| ENST00000705522.1:c.888G>A | ENSP00000516137.1:p.Leu296= | |
| ENST00000265709.13:c.975G>A | ENSP00000265709.8:p.Leu325= | |
| ENST00000289734.13:c.876G>A MANE Select | ENSP00000289734.8:p.Leu292= | |
| ENST00000265709.12:c.975G>A | ENSP00000265709.8:p.Leu325= | |
| ENST00000289734.11:c.876G>A | ENSP00000289734.7:p.Leu292= | |
| ENST00000347528.8:c.876G>A | ENSP00000339620.4:p.Leu292= | |
| NM_000037.3:c.876G>A | NP_000028.3:p.Leu292= | |
| NM_001142446.1:c.975G>A | NP_001135918.1:p.Leu325= | |
| NM_020475.2:c.876G>A | NP_065208.2:p.Leu292= | |
| NM_020476.2:c.876G>A | NP_065209.2:p.Leu292= | |
| NM_020477.2:c.876G>A | NP_065210.2:p.Leu292= | |
| XM_005273476.3:c.975G>A | XP_005273533.1:p.Leu325= | |
| XM_011544490.1:c.1071G>A | XP_011542792.1:p.Leu357= | |
| XM_011544491.1:c.1071G>A | XP_011542793.1:p.Leu357= | |
| XM_011544492.1:c.972G>A | XP_011542794.1:p.Leu324= | |
| XM_011544493.1:c.1071G>A | XP_011542795.1:p.Leu357= | |
| XM_011544494.1:c.1071G>A | XP_011542796.1:p.Leu357= | |
| XM_011544495.1:c.1071G>A | XP_011542797.1:p.Leu357= | |
| XM_011544496.1:c.1071G>A | XP_011542798.1:p.Leu357= | |
| XM_011544497.1:c.975G>A | XP_011542799.1:p.Leu325= | |
| XM_011544498.1:c.888G>A | XP_011542800.1:p.Leu296= | |
| XM_011544499.1:c.1071G>A | XP_011542801.1:p.Leu357= | |
| XM_011544500.1:c.975G>A | XP_011542802.1:p.Leu325= | |
| XM_011544501.1:c.975G>A | XP_011542803.1:p.Leu325= | |
| XM_011544502.1:c.975G>A | XP_011542804.1:p.Leu325= | |
| XM_011544503.1:c.1071G>A | XP_011542805.1:p.Leu357= | |
| XM_011544504.1:c.975G>A | XP_011542806.1:p.Leu325= | |
| XM_011544505.1:c.975G>A | XP_011542807.1:p.Leu325= | |
| XM_011544506.1:c.1071G>A | XP_011542808.1:p.Leu357= | |
| XR_949389.1:n.1090G>A | ||
| XM_005273476.4:c.975G>A | XP_005273533.1:p.Leu325= | |
| XM_011544490.3:c.1071G>A | XP_011542792.1:p.Leu357= | |
| XM_011544491.3:c.1071G>A | XP_011542793.1:p.Leu357= | |
| XM_011544494.3:c.1071G>A | XP_011542796.1:p.Leu357= | |
| XM_011544495.3:c.1071G>A | XP_011542797.1:p.Leu357= | |
| XM_011544496.3:c.1071G>A | XP_011542798.1:p.Leu357= | |
| XM_011544500.2:c.975G>A | XP_011542802.1:p.Leu325= | |
| XM_011544501.2:c.975G>A | XP_011542803.1:p.Leu325= | |
| XM_011544502.2:c.975G>A | XP_011542804.1:p.Leu325= | |
| XM_011544503.3:c.1071G>A | XP_011542805.1:p.Leu357= | |
| XM_011544504.2:c.975G>A | XP_011542806.1:p.Leu325= | |
| XM_011544505.2:c.975G>A | XP_011542807.1:p.Leu325= | |
| XM_017013319.2:c.1071G>A | XP_016868808.1:p.Leu357= | |
| XM_017013320.2:c.1071G>A | XP_016868809.1:p.Leu357= | |
| XM_017013321.1:c.984G>A | XP_016868810.1:p.Leu328= | |
| XM_017013322.1:c.975G>A | XP_016868811.1:p.Leu325= | |
| XM_017013323.1:c.972G>A | XP_016868812.1:p.Leu324= | |
| XM_017013324.1:c.975G>A | XP_016868813.1:p.Leu325= | |
| XM_017013325.1:c.888G>A | XP_016868814.1:p.Leu296= | |
| XM_017013326.1:c.888G>A | XP_016868815.1:p.Leu296= | |
| XM_017013327.2:c.1071G>A | XP_016868816.1:p.Leu357= | |
| XM_017013328.2:c.1071G>A | XP_016868817.1:p.Leu357= | |
| XM_017013329.1:c.975G>A | XP_016868818.1:p.Leu325= | |
| XM_024447128.1:c.876G>A | XP_024302896.1:p.Leu292= | |
| NM_000037.4:c.876G>A MANE Select | NP_000028.3:p.Leu292= | |
| NM_001142446.2:c.975G>A | NP_001135918.1:p.Leu325= | |
| NM_020475.3:c.876G>A | NP_065208.2:p.Leu292= | |
| NM_020476.3:c.876G>A | NP_065209.2:p.Leu292= | |
| NM_020477.3:c.876G>A | NP_065210.2:p.Leu292= |