Linked Data
ClinVar Variation Id:
536972
dbSNP Id:
rs148108718
ExAC:
2:128183655 C / T
gnomAD v2:
2-128183655-C-T
gnomAD v3:
2-127426079-C-T
gnomAD v4:
2-127426079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426079C>T , CM000664.2:g.127426079C>T | GRCh38 |
| NC_000002.11:g.128183655C>T , CM000664.1:g.128183655C>T | GRCh37 |
| NC_000002.10:g.127900125C>T | NCBI36 |
| NG_016323.1:g.12660C>T , LRG_599:g.12660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.536-6C>T MANE Select | ENSP00000234071.4:n.536-6C>T | |
| ENST00000234071.7:c.536-6C>T | ENSP00000234071.3:n.536-6C>T | |
| ENST00000402125.2:c.121-2278C>T | ||
| ENST00000409048.1:c.638-6C>T | ENSP00000386679.1:n.638-6C>T | |
| ENST00000442644.5:c.479-6C>T | ENSP00000411241.1:n.479-6C>T | |
| ENST00000464089.1:n.122-6C>T | ||
| NM_000312.3:c.536-6C>T , LRG_599t1:c.536-6C>T | NP_000303.1:n.536-6C>T | |
| XM_005263715.3:c.719-6C>T | XP_005263772.1:n.719-6C>T | |
| XM_005263716.3:c.701-6C>T | XP_005263773.1:n.701-6C>T | |
| XM_005263717.3:c.599-6C>T | XP_005263774.1:n.599-6C>T | |
| XM_005263717.4:c.599-6C>T | XP_005263774.1:n.599-6C>T | |
| XM_017004505.1:c.779-6C>T | XP_016859994.1:n.779-6C>T | |
| XM_024453002.1:c.881-6C>T | XP_024308770.1:n.881-6C>T | |
| XM_024453003.1:c.821-6C>T | XP_024308771.1:n.821-6C>T | |
| XM_024453004.1:c.719-6C>T | XP_024308772.1:n.719-6C>T | |
| XM_024453005.1:c.701-6C>T | XP_024308773.1:n.701-6C>T | |
| XM_024453006.1:c.638-6C>T | XP_024308774.1:n.638-6C>T | |
| XR_923313.2:n.4506G>A | ||
| NM_000312.4:c.536-6C>T MANE Select | NP_000303.1:n.536-6C>T | |
| NM_001375602.1:c.719-6C>T | NP_001362531.1:n.719-6C>T | |
| NM_001375603.1:c.701-6C>T | NP_001362532.1:n.701-6C>T | |
| NM_001375604.1:c.599-6C>T | NP_001362533.1:n.599-6C>T | |
| NM_001375605.1:c.638-6C>T | NP_001362534.1:n.638-6C>T | |
| NM_001375606.1:c.704-6C>T | NP_001362535.1:n.704-6C>T | |
| NM_001375607.1:c.722-6C>T | NP_001362536.1:n.722-6C>T | |
| NM_001375608.1:c.479-6C>T | NP_001362537.1:n.479-6C>T | |
| NM_001375609.1:c.512-6C>T | NP_001362538.1:n.512-6C>T | |
| NM_001375610.1:c.530-6C>T | NP_001362539.1:n.530-6C>T | |
| NM_001375611.1:c.536-6C>T | NP_001362540.1:n.536-6C>T | |
| NM_001375613.1:c.536-6C>T | NP_001362542.1:n.536-6C>T |