Linked Data
ClinVar Variation Id:
514911
ClinVar RCV Id:
RCV000614399
dbSNP Id:
rs1480534000
gnomAD v2:
9-452135-T-C
gnomAD v3:
9-452135-T-C
gnomAD v4:
9-452135-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.452135T>C , CM000671.2:g.452135T>C | GRCh38 |
| NC_000009.11:g.452135T>C , CM000671.1:g.452135T>C | GRCh37 |
| NC_000009.10:g.442135T>C | NCBI36 |
| NG_017007.1:g.242271T>C , LRG_196:g.242271T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.5768+18T>C | ENSP00000371766.2:n.5768+18T>C | |
| ENST00000683406.1:n.2543+18T>C | ||
| ENST00000684637.1:n.1749+18T>C | ||
| ENST00000685949.1:n.4856+18T>C | ||
| ENST00000432829.7:c.6068+18T>C MANE Select | ENSP00000394888.3:n.6068+18T>C | |
| ENST00000382329.1:c.4469+18T>C | ENSP00000371766.1:n.4469+18T>C | |
| ENST00000432829.6:c.6068+18T>C | ENSP00000394888.3:n.6068+18T>C | |
| ENST00000453981.5:c.5864+18T>C | ENSP00000408464.2:n.5864+18T>C | |
| ENST00000469391.5:c.5768+18T>C | ENSP00000419438.1:n.5768+18T>C | |
| ENST00000495184.5:n.8023+18T>C | ||
| NM_001190458.1:c.5768+18T>C | NP_001177387.1:n.5768+18T>C | |
| NM_001193536.1:c.5864+18T>C | NP_001180465.1:n.5864+18T>C | |
| NM_203447.3:c.6068+18T>C , LRG_196t1:c.6068+18T>C | NP_982272.2:n.6068+18T>C | |
| XM_011518045.1:c.5768+18T>C | XP_011516347.1:n.5768+18T>C | |
| XM_011518046.1:c.5930+18T>C | XP_011516348.1:n.5930+18T>C | |
| XM_011518047.1:c.5864+18T>C | XP_011516349.1:n.5864+18T>C | |
| XM_011518048.1:c.5864+18T>C | XP_011516350.1:n.5864+18T>C | |
| XM_011518049.1:c.4304+18T>C | XP_011516351.1:n.4304+18T>C | |
| XM_011518045.3:c.5768+18T>C | XP_011516347.1:n.5768+18T>C | |
| XM_011518046.2:c.5930+18T>C | XP_011516348.1:n.5930+18T>C | |
| XM_011518047.3:c.5864+18T>C | XP_011516349.1:n.5864+18T>C | |
| XM_011518048.2:c.5864+18T>C | XP_011516350.1:n.5864+18T>C | |
| XM_011518049.2:c.4304+18T>C | XP_011516351.1:n.4304+18T>C | |
| XM_017015173.1:c.5864+18T>C | XP_016870662.1:n.5864+18T>C | |
| XM_017015174.1:c.5930+18T>C | XP_016870663.1:n.5930+18T>C | |
| NM_001190458.2:c.5768+18T>C | NP_001177387.1:n.5768+18T>C | |
| NM_001193536.2:c.5864+18T>C | NP_001180465.1:n.5864+18T>C | |
| NM_203447.4:c.6068+18T>C MANE Select | NP_982272.2:n.6068+18T>C |