gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10214110A>T , CM000670.2:g.10214110A>T | GRCh38 |
| NC_000008.10:g.10071620A>T , CM000670.1:g.10071620A>T | GRCh37 |
| NC_000008.9:g.10109030A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317173.9:c.211+6209A>T MANE Select | ENSP00000313921.4:n.211+6209A>T | |
| ENST00000317173.8:c.211+6209A>T | ENSP00000313921.4:n.211+6209A>T | |
| ENST00000382490.9:c.82+6209A>T | ENSP00000371930.5:n.82+6209A>T | |
| ENST00000441698.6:c.211+6209A>T | ENSP00000410912.2:n.211+6209A>T | |
| ENST00000518255.5:c.211+6209A>T | ENSP00000429461.1:n.211+6209A>T | |
| ENST00000521209.6:c.13+6209A>T | ENSP00000435644.1:n.13+6209A>T | |
| ENST00000522907.5:c.13+6209A>T | ENSP00000428214.1:n.13+6209A>T | |
| ENST00000523637.2:n.386+6209A>T | ||
| ENST00000528246.5:c.13+6209A>T | ENSP00000436839.1:n.13+6209A>T | |
| NM_001135670.2:c.211+6209A>T | NP_001129142.1:n.211+6209A>T | |
| NM_001135671.2:c.82+6209A>T | NP_001129143.1:n.82+6209A>T | |
| NM_001199729.2:c.13+6209A>T | NP_001186658.1:n.13+6209A>T | |
| NM_012331.4:c.211+6209A>T | NP_036463.1:n.211+6209A>T | |
| XM_011543822.1:c.211+6209A>T | XP_011542124.1:n.211+6209A>T | |
| XM_011543823.1:c.211+6209A>T | XP_011542125.1:n.211+6209A>T | |
| XM_011543822.2:c.211+6209A>T | XP_011542124.1:n.211+6209A>T | |
| XM_011543823.2:c.211+6209A>T | XP_011542125.1:n.211+6209A>T | |
| XM_017013448.2:c.211+6209A>T | XP_016868937.1:n.211+6209A>T | |
| XM_017013449.2:c.13+6209A>T | XP_016868938.1:n.13+6209A>T | |
| XM_017013450.2:c.13+6209A>T | XP_016868939.1:n.13+6209A>T | |
| XM_017013451.2:c.82+6209A>T | XP_016868940.1:n.82+6209A>T | |
| XM_024447162.1:c.211+6209A>T | XP_024302930.1:n.211+6209A>T | |
| NM_012331.5:c.211+6209A>T MANE Select | NP_036463.1:n.211+6209A>T | |
| NM_001135670.3:c.211+6209A>T | NP_001129142.1:n.211+6209A>T | |
| NM_001135671.3:c.82+6209A>T | NP_001129143.1:n.82+6209A>T | |
| NM_001199729.3:c.13+6209A>T | NP_001186658.1:n.13+6209A>T |