Linked Data
ClinVar Variation Id:
471194
dbSNP Id:
rs375562377
ExAC:
12:995159 C / T
gnomAD v2:
12-995159-C-T
gnomAD v3:
12-885993-C-T
gnomAD v4:
12-885993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.885993C>T , CM000674.2:g.885993C>T | GRCh38 |
| NC_000012.11:g.995159C>T , CM000674.1:g.995159C>T | GRCh37 |
| NC_000012.10:g.865420C>T | NCBI36 |
| NG_007984.2:g.137935C>T | |
| NG_007984.3:g.137935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.5189C>T MANE Select | ENSP00000313059.6:p.Thr1730Ile | |
| ENST00000340908.9:c.5945C>T MANE Plus Clinical | ENSP00000341292.5:p.Thr1982Ile | |
| ENST00000675631.1:c.3968C>T | ENSP00000502415.1:p.Thr1323Ile | |
| ENST00000676347.1:c.2636C>T | ENSP00000501875.1:p.Thr879Ile | |
| ENST00000315939.10:c.5189C>T | ENSP00000313059.6:p.Thr1730Ile | |
| ENST00000340908.8:c.5945C>T | ENSP00000341292.5:p.Thr1982Ile | |
| ENST00000530271.6:c.6428C>T | ENSP00000433548.3:p.Thr2143Ile | |
| ENST00000535572.5:c.4448C>T | ENSP00000441972.1:p.Thr1483Ile | |
| ENST00000537687.5:c.5969C>T | ENSP00000444465.1:p.Thr1990Ile | |
| NM_001184985.1:c.5969C>T | NP_001171914.1:p.Thr1990Ile | |
| NM_014823.2:c.4448C>T | NP_055638.2:p.Thr1483Ile | |
| NM_018979.3:c.5189C>T | NP_061852.3:p.Thr1730Ile | |
| NM_213655.4:c.5945C>T | NP_998820.3:p.Thr1982Ile | |
| XM_006719003.1:c.5186C>T | XP_006719066.1:p.Thr1729Ile | |
| XM_011520997.1:c.6428C>T | XP_011519299.1:p.Thr2143Ile | |
| XM_011520998.1:c.6425C>T | XP_011519300.1:p.Thr2142Ile | |
| XM_011520999.1:c.6428C>T | XP_011519301.1:p.Thr2143Ile | |
| XM_011521000.1:c.6428C>T | XP_011519302.1:p.Thr2143Ile | |
| XM_011521001.1:c.6149C>T | XP_011519303.1:p.Thr2050Ile | |
| XM_011521002.1:c.5966C>T | XP_011519304.1:p.Thr1989Ile | |
| XM_011521003.1:c.5690C>T | XP_011519305.1:p.Thr1897Ile | |
| XM_011521004.1:c.5687C>T | XP_011519306.1:p.Thr1896Ile | |
| XM_011521005.1:c.5207C>T | XP_011519307.1:p.Thr1736Ile | |
| XM_011521006.1:c.5105C>T | XP_011519308.1:p.Thr1702Ile | |
| XM_011521007.1:c.5102C>T | XP_011519309.1:p.Thr1701Ile | |
| XM_011521008.1:c.4367C>T | XP_011519310.1:p.Thr1456Ile | |
| XM_011521009.1:c.4364C>T | XP_011519311.1:p.Thr1455Ile | |
| XM_006719003.2:c.5186C>T | XP_006719066.1:p.Thr1729Ile | |
| XM_011520997.3:c.6428C>T | XP_011519299.1:p.Thr2143Ile | |
| XM_011520998.2:c.6425C>T | XP_011519300.1:p.Thr2142Ile | |
| XM_011520999.2:c.6428C>T | XP_011519301.1:p.Thr2143Ile | |
| XM_011521000.2:c.6428C>T | XP_011519302.1:p.Thr2143Ile | |
| XM_011521001.2:c.6149C>T | XP_011519303.1:p.Thr2050Ile | |
| XM_011521002.2:c.5966C>T | XP_011519304.1:p.Thr1989Ile | |
| XM_011521003.2:c.5690C>T | XP_011519305.1:p.Thr1897Ile | |
| XM_011521004.2:c.5687C>T | XP_011519306.1:p.Thr1896Ile | |
| XM_011521005.2:c.5207C>T | XP_011519307.1:p.Thr1736Ile | |
| XM_011521006.2:c.5105C>T | XP_011519308.1:p.Thr1702Ile | |
| XM_011521007.2:c.5102C>T | XP_011519309.1:p.Thr1701Ile | |
| XM_011521008.2:c.4367C>T | XP_011519310.1:p.Thr1456Ile | |
| XM_011521009.2:c.4364C>T | XP_011519311.1:p.Thr1455Ile | |
| XM_017019834.1:c.4727C>T | XP_016875323.1:p.Thr1576Ile | |
| XM_017019835.1:c.4646C>T | XP_016875324.1:p.Thr1549Ile | |
| XM_017019836.1:c.4643C>T | XP_016875325.1:p.Thr1548Ile | |
| XM_017019837.1:c.4451C>T | XP_016875326.1:p.Thr1484Ile | |
| XM_017019838.1:c.4448C>T | XP_016875327.1:p.Thr1483Ile | |
| XM_017019839.1:c.4367C>T | XP_016875328.1:p.Thr1456Ile | |
| NM_018979.4:c.5189C>T MANE Select | NP_061852.3:p.Thr1730Ile | |
| NM_014823.3:c.4448C>T | NP_055638.2:p.Thr1483Ile | |
| NM_001184985.2:c.5969C>T | NP_001171914.1:p.Thr1990Ile | |
| NM_213655.5:c.5945C>T MANE Plus Clinical | NP_998820.3:p.Thr1982Ile |