Linked Data
dbSNP Id:
rs1077989
gnomAD v2:
14-67975822-A-C
gnomAD v3:
14-67509105-A-C
gnomAD v4:
14-67509105-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67509105A>C , CM000676.2:g.67509105A>C | GRCh38 |
| NC_000014.8:g.67975822A>C , CM000676.1:g.67975822A>C | GRCh37 |
| NC_000014.7:g.67045575A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357461.7:c.-192+5981T>G (TMEM229B) | ENSP00000350050.2:n.-192+5981T>G | |
| ENST00000554278.6:c.-191-21933T>G (TMEM229B) | ENSP00000452402.2:n.-191-21933T>G | |
| ENST00000555994.6:c.-256-5554T>G (TMEM229B) | ENSP00000452144.2:n.-256-5554T>G | |
| ENST00000557006.6:c.-256-5554T>G (TMEM229B) | ENSP00000451774.1:n.-256-5554T>G | |
| ENST00000357461.6:c.-192+5981T>G (TMEM229B) | ENSP00000350050.2:n.-192+5981T>G | |
| ENST00000554278.5:c.-191-21933T>G (TMEM229B) | ENSP00000452402.1:n.-191-21933T>G | |
| ENST00000555638.5:c.-192+6340T>G (TMEM229B) | ENSP00000452201.1:n.-192+6340T>G | |
| ENST00000555994.5:c.-256-5554T>G (TMEM229B) | ENSP00000452144.1:n.-256-5554T>G | |
| ENST00000557006.5:c.-256-5554T>G (TMEM229B) | ENSP00000451774.1:n.-256-5554T>G | |
| ENST00000557779.1:c.-192+5981T>G (TMEM229B) | ENSP00000452025.1:n.-192+5981T>G | |
| NM_182526.2:c.-192+5981T>G (TMEM229B) | NP_872332.1:n.-192+5981T>G | |
| XM_005267374.3:c.-256-5554T>G (TMEM229B) | XP_005267431.1:n.-256-5554T>G | |
| XM_005267375.2:c.-192+6340T>G (TMEM229B) | XP_005267432.1:n.-192+6340T>G | |
| XM_006720062.2:c.-191-21933T>G (TMEM229B) | XP_006720125.1:n.-191-21933T>G | |
| NM_001348544.1:c.-256-5554T>G (TMEM229B) | NP_001335473.1:n.-256-5554T>G | |
| NM_001348546.1:c.-191-21933T>G (TMEM229B) | NP_001335475.1:n.-191-21933T>G | |
| NM_001348547.1:c.-191-21933T>G (TMEM229B) | NP_001335476.1:n.-191-21933T>G | |
| NM_001348548.1:c.-192+6340T>G (TMEM229B) | NP_001335477.1:n.-192+6340T>G | |
| NM_001348549.1:c.-256-5554T>G (TMEM229B) | NP_001335478.1:n.-256-5554T>G | |
| XM_017020925.2:c.1313-226090A>C (GPHN) | XP_016876414.1:n.1313-226090A>C | |
| NM_001348544.2:c.-256-5554T>G (TMEM229B) | NP_001335473.1:n.-256-5554T>G | |
| NM_001348547.2:c.-191-21933T>G (TMEM229B) | NP_001335476.1:n.-191-21933T>G | |
| NM_001348548.2:c.-192+6340T>G (TMEM229B) | NP_001335477.1:n.-192+6340T>G | |
| NM_001348549.2:c.-256-5554T>G (TMEM229B) | NP_001335478.1:n.-256-5554T>G | |
| NM_001348546.2:c.-191-21933T>G (TMEM229B) | NP_001335475.1:n.-191-21933T>G | |
| NM_182526.3:c.-192+5981T>G (TMEM229B) | NP_872332.1:n.-192+5981T>G |