Linked Data
dbSNP Id:
rs993159119
gnomAD v2:
4-108949097-C-T
gnomAD v3:
4-108027941-C-T
gnomAD v4:
4-108027941-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108027941C>T , CM000666.2:g.108027941C>T | GRCh38 |
| NC_000004.11:g.108949097C>T , CM000666.1:g.108949097C>T | GRCh37 |
| NC_000004.10:g.109168546C>T | NCBI36 |
| NG_008156.2:g.43158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507260.3:n.5100C>T | ||
| ENST00000510728.6:n.1700C>T | ||
| ENST00000514776.3:n.323C>T | ||
| ENST00000515462.7:n.2077C>T | ||
| ENST00000626637.2:c.721+181C>T | ENSP00000486771.1:n.721+181C>T | |
| ENST00000638648.2:c.724C>T | ENSP00000507949.1:p.Pro242Ser | |
| ENST00000640201.2:n.976C>T | ||
| ENST00000640752.2:n.4919+181C>T | ||
| ENST00000682067.1:c.542+181C>T | ||
| ENST00000682086.1:n.959C>T | ||
| ENST00000682373.1:c.368+181C>T | ||
| ENST00000684696.1:c.639C>T | ENSP00000507675.1:p.Gly213= | |
| ENST00000309522.8:c.709+181C>T MANE Select | ENSP00000312288.4:n.709+181C>T | |
| ENST00000403312.6:c.709+181C>T | ENSP00000385638.3:n.709+181C>T | |
| ENST00000505878.4:c.886+181C>T | ENSP00000425952.2:n.886+181C>T | |
| ENST00000514776.2:n.323C>T | ||
| ENST00000515462.6:n.2077C>T | ||
| ENST00000638559.1:c.567+181C>T | ||
| ENST00000638621.1:c.295+181C>T | ENSP00000491581.1:n.295+181C>T | |
| ENST00000638648.1:n.860+181C>T | ||
| ENST00000639146.1:c.712C>T | ENSP00000492345.1:p.Pro238Ser | |
| ENST00000639335.1:c.*144+181C>T | ENSP00000491310.1:n.*144+181C>T | |
| ENST00000639698.1:c.516+4378C>T | ENSP00000492420.1:n.516+4378C>T | |
| ENST00000639784.1:c.373+4378C>T | ||
| ENST00000640048.1:c.681+181C>T | ENSP00000492009.1:n.681+181C>T | |
| ENST00000640060.1:c.*804+181C>T | ENSP00000492734.1:n.*804+181C>T | |
| ENST00000640201.1:n.845C>T | ||
| ENST00000640752.1:n.4912+181C>T | ||
| ENST00000309522.7:c.709+181C>T | ENSP00000312288.3:n.709+181C>T | |
| ENST00000403312.5:c.886+181C>T | ENSP00000385638.2:n.886+181C>T | |
| ENST00000505878.3:c.721+181C>T | ENSP00000425952.1:n.721+181C>T | |
| ENST00000510728.5:n.252C>T | ||
| ENST00000515462.5:n.227C>T | ||
| ENST00000603302.5:c.709+181C>T | ENSP00000474560.1:n.709+181C>T | |
| ENST00000626637.1:c.721+181C>T | ENSP00000486771.1:n.721+181C>T | |
| NM_001184705.2:c.709+181C>T | NP_001171634.2:n.709+181C>T | |
| NM_005327.4:c.709+181C>T | NP_005318.3:n.709+181C>T | |
| XM_005262972.1:c.721+181C>T | XP_005263029.1:n.721+181C>T | |
| XR_938726.1:n.1039C>T | ||
| NM_001331027.1:c.721+181C>T | NP_001317956.1:n.721+181C>T | |
| XR_001741214.2:n.806C>T | ||
| XR_002959727.1:n.984C>T | ||
| NM_001184705.3:c.709+181C>T | NP_001171634.2:n.709+181C>T | |
| NM_005327.7:c.709+181C>T MANE Select | NP_005318.6:n.709+181C>T | |
| NM_001184705.4:c.709+181C>T | NP_001171634.3:n.709+181C>T | |
| NM_001331027.2:c.721+181C>T | NP_001317956.2:n.721+181C>T |