Linked Data
ClinVar Variation Id:
364507
dbSNP Id:
rs886063330
gnomAD v2:
9-108400053-G-T
gnomAD v3:
9-105637772-G-T
gnomAD v4:
9-105637772-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105637772G>T , CM000671.2:g.105637772G>T | GRCh38 |
| NC_000009.11:g.108400053G>T , CM000671.1:g.108400053G>T | GRCh37 |
| NC_000009.10:g.107439874G>T | NCBI36 |
| NG_008754.1:g.84643G>T , LRG_434:g.84643G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357998.10:c.*2508G>T MANE Select | ENSP00000350687.6:n.*2508G>T | |
| ENST00000642952.1:c.1611-2329G>T | ENSP00000493886.1:n.1611-2329G>T | |
| ENST00000644273.1:c.554-2329G>T | ||
| ENST00000674633.1:c.1270+2624G>T | ENSP00000502164.1:n.1270+2624G>T | |
| ENST00000675695.1:c.*2875G>T | ENSP00000502460.1:n.*2875G>T | |
| ENST00000675736.1:c.*3674G>T | ENSP00000502809.1:n.*3674G>T | |
| ENST00000676011.1:n.5258G>T | ||
| ENST00000676310.1:c.1270+2624G>T | ENSP00000501585.1:n.1270+2624G>T | |
| ENST00000223528.6:c.*2508G>T | ENSP00000223528.2:n.*2508G>T | |
| ENST00000357998.9:c.1271-2329G>T | ENSP00000350687.5:n.1271-2329G>T | |
| ENST00000448551.6:c.1271-2329G>T | ENSP00000399140.2:n.1271-2329G>T | |
| ENST00000602526.1:c.*3932G>T | ENSP00000473347.1:n.*3932G>T | |
| NM_001079802.1:c.*2508G>T , LRG_434t1:c.*2508G>T | NP_001073270.1:n.*2508G>T | |
| NM_001198963.1:c.1271-2329G>T | NP_001185892.1:n.1271-2329G>T | |
| NM_006731.2:c.*2508G>T , LRG_434t2:c.*2508G>T | NP_006722.2:n.*2508G>T | |
| XM_006717014.2:c.*2686G>T | XP_006717077.1:n.*2686G>T | |
| NM_001351496.1:c.*2508G>T | NP_001338425.1:n.*2508G>T | |
| NM_001351497.1:c.*2508G>T | NP_001338426.1:n.*2508G>T | |
| NM_001351498.1:c.*2686G>T | NP_001338427.1:n.*2686G>T | |
| NM_001351499.1:c.*2508G>T | NP_001338428.1:n.*2508G>T | |
| NM_001351500.1:c.*2508G>T | NP_001338429.1:n.*2508G>T | |
| NM_001351501.1:c.*2508G>T | NP_001338430.1:n.*2508G>T | |
| NM_001351502.1:c.*2508G>T | NP_001338431.1:n.*2508G>T | |
| NR_147213.1:n.4018G>T | ||
| NR_147214.1:n.4190G>T | ||
| XM_011518391.2:c.*2686G>T | XP_011516693.1:n.*2686G>T | |
| XM_017014464.1:c.1270+2624G>T | XP_016869953.1:n.1270+2624G>T | |
| XM_017014465.1:c.1270+2624G>T | XP_016869954.1:n.1270+2624G>T | |
| XM_017014467.1:c.*2508G>T | XP_016869956.1:n.*2508G>T | |
| XM_017014468.1:c.*2508G>T | XP_016869957.1:n.*2508G>T | |
| XM_017014469.1:c.1270+2624G>T | XP_016869958.1:n.1270+2624G>T | |
| XM_017014470.1:c.1270+2624G>T | XP_016869959.1:n.1270+2624G>T | |
| XR_001746242.2:n.1837+2624G>T | ||
| XR_001746244.2:n.1665+2624G>T | ||
| XR_001746245.1:n.4280G>T | ||
| XR_001746248.1:n.5373G>T | ||
| XR_002956770.1:n.4136G>T | ||
| NM_001079802.2:c.*2508G>T MANE Select | NP_001073270.1:n.*2508G>T | |
| NM_001198963.2:c.1271-2329G>T | NP_001185892.1:n.1271-2329G>T | |
| NM_001351496.2:c.*2508G>T | NP_001338425.1:n.*2508G>T | |
| NM_001351497.2:c.*2508G>T | NP_001338426.1:n.*2508G>T | |
| NM_001351498.2:c.*2686G>T | NP_001338427.1:n.*2686G>T | |
| NM_001351499.2:c.*2508G>T | NP_001338428.1:n.*2508G>T | |
| NM_001351500.2:c.*2508G>T | NP_001338429.1:n.*2508G>T | |
| NM_001351501.2:c.*2508G>T | NP_001338430.1:n.*2508G>T | |
| NM_001351502.2:c.*2508G>T | NP_001338431.1:n.*2508G>T | |
| NR_147213.2:n.4017G>T | ||
| NR_147214.2:n.4189G>T |