Linked Data
dbSNP Id:
rs767246519
ExAC:
4:108948938 G / A
gnomAD v2:
4-108948938-G-A
gnomAD v4:
4-108027782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108027782G>A , CM000666.2:g.108027782G>A | GRCh38 |
| NC_000004.11:g.108948938G>A , CM000666.1:g.108948938G>A | GRCh37 |
| NC_000004.10:g.109168387G>A | NCBI36 |
| NG_008156.2:g.42999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507260.3:n.4941G>A | ||
| ENST00000510728.6:n.1697+22G>A | ||
| ENST00000514776.3:n.164G>A | ||
| ENST00000515462.7:n.1918G>A | ||
| ENST00000626637.2:c.721+22G>A | ENSP00000486771.1:n.721+22G>A | |
| ENST00000638648.2:c.721+22G>A | ENSP00000507949.1:n.721+22G>A | |
| ENST00000640201.2:n.817G>A | ||
| ENST00000640752.2:n.4919+22G>A | ||
| ENST00000682067.1:c.542+22G>A | ||
| ENST00000682086.1:n.800G>A | ||
| ENST00000682373.1:c.368+22G>A | ||
| ENST00000684696.1:c.637-157G>A | ENSP00000507675.1:n.637-157G>A | |
| ENST00000309522.8:c.709+22G>A MANE Select | ENSP00000312288.4:n.709+22G>A | |
| ENST00000403312.6:c.709+22G>A | ENSP00000385638.3:n.709+22G>A | |
| ENST00000505878.4:c.886+22G>A | ENSP00000425952.2:n.886+22G>A | |
| ENST00000514776.2:n.164G>A | ||
| ENST00000515462.6:n.1918G>A | ||
| ENST00000638559.1:c.567+22G>A | ||
| ENST00000638621.1:c.295+22G>A | ENSP00000491581.1:n.295+22G>A | |
| ENST00000638648.1:n.860+22G>A | ||
| ENST00000639146.1:c.709+22G>A | ENSP00000492345.1:n.709+22G>A | |
| ENST00000639335.1:c.*144+22G>A | ENSP00000491310.1:n.*144+22G>A | |
| ENST00000639698.1:c.516+4219G>A | ENSP00000492420.1:n.516+4219G>A | |
| ENST00000639784.1:c.373+4219G>A | ||
| ENST00000640048.1:c.681+22G>A | ENSP00000492009.1:n.681+22G>A | |
| ENST00000640060.1:c.*804+22G>A | ENSP00000492734.1:n.*804+22G>A | |
| ENST00000640201.1:n.686G>A | ||
| ENST00000640752.1:n.4912+22G>A | ||
| ENST00000309522.7:c.709+22G>A | ENSP00000312288.3:n.709+22G>A | |
| ENST00000403312.5:c.886+22G>A | ENSP00000385638.2:n.886+22G>A | |
| ENST00000505878.3:c.721+22G>A | ENSP00000425952.1:n.721+22G>A | |
| ENST00000507260.1:n.431G>A | ||
| ENST00000510728.5:n.249+22G>A | ||
| ENST00000515462.5:n.68G>A | ||
| ENST00000603302.5:c.709+22G>A | ENSP00000474560.1:n.709+22G>A | |
| ENST00000626637.1:c.721+22G>A | ENSP00000486771.1:n.721+22G>A | |
| NM_001184705.2:c.709+22G>A | NP_001171634.2:n.709+22G>A | |
| NM_005327.4:c.709+22G>A | NP_005318.3:n.709+22G>A | |
| XM_005262972.1:c.721+22G>A | XP_005263029.1:n.721+22G>A | |
| XR_938726.1:n.880G>A | ||
| NM_001331027.1:c.721+22G>A | NP_001317956.1:n.721+22G>A | |
| XR_001741214.2:n.803+22G>A | ||
| XR_002959727.1:n.825G>A | ||
| NM_001184705.3:c.709+22G>A | NP_001171634.2:n.709+22G>A | |
| NM_005327.7:c.709+22G>A MANE Select | NP_005318.6:n.709+22G>A | |
| NM_001184705.4:c.709+22G>A | NP_001171634.3:n.709+22G>A | |
| NM_001331027.2:c.721+22G>A | NP_001317956.2:n.721+22G>A |