Linked Data
dbSNP Id:
rs138235270
gnomAD v2:
4-108949101-C-T
gnomAD v3:
4-108027945-C-T
gnomAD v4:
4-108027945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108027945C>T , CM000666.2:g.108027945C>T | GRCh38 |
| NC_000004.11:g.108949101C>T , CM000666.1:g.108949101C>T | GRCh37 |
| NC_000004.10:g.109168550C>T | NCBI36 |
| NG_008156.2:g.43162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507260.3:n.5104C>T | ||
| ENST00000510728.6:n.1704C>T | ||
| ENST00000514776.3:n.327C>T | ||
| ENST00000515462.7:n.2081C>T | ||
| ENST00000626637.2:c.721+185C>T | ENSP00000486771.1:n.721+185C>T | |
| ENST00000638648.2:c.728C>T | ENSP00000507949.1:p.Pro243Leu | |
| ENST00000640201.2:n.980C>T | ||
| ENST00000640752.2:n.4919+185C>T | ||
| ENST00000682067.1:c.542+185C>T | ||
| ENST00000682086.1:n.963C>T | ||
| ENST00000682373.1:c.368+185C>T | ||
| ENST00000684696.1:c.643C>T | ENSP00000507675.1:p.Leu215= | |
| ENST00000309522.8:c.709+185C>T MANE Select | ENSP00000312288.4:n.709+185C>T | |
| ENST00000403312.6:c.709+185C>T | ENSP00000385638.3:n.709+185C>T | |
| ENST00000505878.4:c.886+185C>T | ENSP00000425952.2:n.886+185C>T | |
| ENST00000514776.2:n.327C>T | ||
| ENST00000515462.6:n.2081C>T | ||
| ENST00000638559.1:c.567+185C>T | ||
| ENST00000638621.1:c.295+185C>T | ENSP00000491581.1:n.295+185C>T | |
| ENST00000638648.1:n.860+185C>T | ||
| ENST00000639146.1:c.716C>T | ENSP00000492345.1:p.Pro239Leu | |
| ENST00000639335.1:c.*144+185C>T | ENSP00000491310.1:n.*144+185C>T | |
| ENST00000639698.1:c.516+4382C>T | ENSP00000492420.1:n.516+4382C>T | |
| ENST00000639784.1:c.373+4382C>T | ||
| ENST00000640048.1:c.681+185C>T | ENSP00000492009.1:n.681+185C>T | |
| ENST00000640060.1:c.*804+185C>T | ENSP00000492734.1:n.*804+185C>T | |
| ENST00000640201.1:n.849C>T | ||
| ENST00000640752.1:n.4912+185C>T | ||
| ENST00000309522.7:c.709+185C>T | ENSP00000312288.3:n.709+185C>T | |
| ENST00000403312.5:c.886+185C>T | ENSP00000385638.2:n.886+185C>T | |
| ENST00000505878.3:c.721+185C>T | ENSP00000425952.1:n.721+185C>T | |
| ENST00000510728.5:n.256C>T | ||
| ENST00000515462.5:n.231C>T | ||
| ENST00000603302.5:c.709+185C>T | ENSP00000474560.1:n.709+185C>T | |
| ENST00000626637.1:c.721+185C>T | ENSP00000486771.1:n.721+185C>T | |
| NM_001184705.2:c.709+185C>T | NP_001171634.2:n.709+185C>T | |
| NM_005327.4:c.709+185C>T | NP_005318.3:n.709+185C>T | |
| XM_005262972.1:c.721+185C>T | XP_005263029.1:n.721+185C>T | |
| XR_938726.1:n.1043C>T | ||
| NM_001331027.1:c.721+185C>T | NP_001317956.1:n.721+185C>T | |
| XR_001741214.2:n.810C>T | ||
| XR_002959727.1:n.988C>T | ||
| NM_001184705.3:c.709+185C>T | NP_001171634.2:n.709+185C>T | |
| NM_005327.7:c.709+185C>T MANE Select | NP_005318.6:n.709+185C>T | |
| NM_001184705.4:c.709+185C>T | NP_001171634.3:n.709+185C>T | |
| NM_001331027.2:c.721+185C>T | NP_001317956.2:n.721+185C>T |