Linked Data
ClinVar Variation Id:
180327
ClinVar RCV Id:
RCV000157194
dbSNP Id:
rs730880083
gnomAD v2:
6-7579622-G-T
gnomAD v4:
6-7579389-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579389G>T , CM000668.2:g.7579389G>T | GRCh38 |
| NC_000006.11:g.7579622G>T , CM000668.1:g.7579622G>T | GRCh37 |
| NC_000006.10:g.7524621G>T | NCBI36 |
| NG_008803.1:g.42753G>T , LRG_423:g.42753G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3199G>T | ENSP00000518230.1:p.Ala1067Ser | |
| ENST00000379802.8:c.3199G>T MANE Select | ENSP00000369129.3:p.Ala1067Ser | |
| ENST00000379802.7:c.3199G>T | ENSP00000369129.3:p.Ala1067Ser | |
| ENST00000418664.2:c.3199G>T | ENSP00000396591.2:p.Ala1067Ser | |
| NM_001008844.1:c.3199G>T | NP_001008844.1:p.Ala1067Ser | |
| NM_004415.2:c.3199G>T , LRG_423t1:c.3199G>T | NP_004406.2:p.Ala1067Ser | |
| XM_011514323.1:c.3199G>T | XP_011512625.1:p.Ala1067Ser | |
| NM_001008844.2:c.3199G>T | NP_001008844.1:p.Ala1067Ser | |
| NM_001319034.1:c.3199G>T | NP_001305963.1:p.Ala1067Ser | |
| NM_004415.3:c.3199G>T | NP_004406.2:p.Ala1067Ser | |
| NM_004415.4:c.3199G>T MANE Select | NP_004406.2:p.Ala1067Ser | |
| NM_001008844.3:c.3199G>T | NP_001008844.1:p.Ala1067Ser | |
| NM_001319034.2:c.3199G>T | NP_001305963.1:p.Ala1067Ser |