Linked Data
dbSNP Id:
rs1027841
gnomAD v2:
4-146769074-G-A
gnomAD v3:
4-145847922-G-A
gnomAD v4:
4-145847922-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145847922G>A , CM000666.2:g.145847922G>A | GRCh38 |
| NC_000004.11:g.146769074G>A , CM000666.1:g.146769074G>A | GRCh37 |
| NC_000004.10:g.146988524G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379448.9:c.2221+1400C>T | ENSP00000368761.4:n.2221+1400C>T | |
| ENST00000503462.3:c.2221+1400C>T | ENSP00000424541.2:n.2221+1400C>T | |
| ENST00000508784.6:c.2221+1400C>T MANE Select | ENSP00000421863.1:n.2221+1400C>T | |
| ENST00000511659.2:c.1138+1400C>T | ENSP00000424456.2:n.1138+1400C>T | |
| ENST00000652097.1:c.2221+1400C>T | ENSP00000498532.1:n.2221+1400C>T | |
| ENST00000655597.2:c.1694+1400C>T | ||
| ENST00000656985.1:c.2221+1400C>T | ENSP00000499364.1:n.2221+1400C>T | |
| ENST00000671990.1:n.875+1400C>T | ||
| ENST00000672532.1:n.5771+1400C>T | ||
| ENST00000672795.1:n.5340+1400C>T | ||
| ENST00000673178.1:c.566+1400C>T | ||
| ENST00000673452.1:n.545+1400C>T | ||
| ENST00000379448.8:c.2221+1400C>T | ENSP00000368761.4:n.2221+1400C>T | |
| ENST00000508784.5:c.2221+1400C>T | ENSP00000421863.1:n.2221+1400C>T | |
| ENST00000513320.5:c.1171+1400C>T | ENSP00000423130.1:n.1171+1400C>T | |
| NM_001306215.1:c.2221+1400C>T | NP_001293144.1:n.2221+1400C>T | |
| NM_178835.3:c.2221+1400C>T | NP_849157.2:n.2221+1400C>T | |
| NM_178835.4:c.2221+1400C>T | NP_849157.2:n.2221+1400C>T | |
| XM_011531632.1:c.2545+1400C>T | XP_011529934.1:n.2545+1400C>T | |
| XM_011531633.1:c.2539+1400C>T | XP_011529935.1:n.2539+1400C>T | |
| XM_011531634.1:c.2221+1400C>T | XP_011529936.1:n.2221+1400C>T | |
| XM_011531635.1:c.2185+1400C>T | XP_011529937.1:n.2185+1400C>T | |
| XM_011531636.1:c.2185+1400C>T | XP_011529938.1:n.2185+1400C>T | |
| XM_011531637.1:c.2185+1400C>T | XP_011529939.1:n.2185+1400C>T | |
| XM_011531638.1:c.2545+1400C>T | XP_011529940.1:n.2545+1400C>T | |
| XM_011531639.1:c.2545+1400C>T | XP_011529941.1:n.2545+1400C>T | |
| XM_011531640.1:c.2545+1400C>T | XP_011529942.1:n.2545+1400C>T | |
| XM_011531641.1:c.2545+1400C>T | XP_011529943.1:n.2545+1400C>T | |
| XM_011531642.1:c.2545+1400C>T | XP_011529944.1:n.2545+1400C>T | |
| XM_011531643.1:c.2545+1400C>T | XP_011529945.1:n.2545+1400C>T | |
| XM_011531645.1:c.217+1400C>T | XP_011529947.1:n.217+1400C>T | |
| XM_011531634.3:c.2221+1400C>T | XP_011529936.1:n.2221+1400C>T | |
| XM_011531635.2:c.2185+1400C>T | XP_011529937.1:n.2185+1400C>T | |
| XM_011531645.2:c.217+1400C>T | XP_011529947.1:n.217+1400C>T | |
| XM_017007768.2:c.2215+1400C>T | XP_016863257.1:n.2215+1400C>T | |
| XM_017007769.1:c.2185+1400C>T | XP_016863258.1:n.2185+1400C>T | |
| XM_017007770.2:c.1987+1400C>T | XP_016863259.1:n.1987+1400C>T | |
| XM_017007771.2:c.2221+1400C>T | XP_016863260.1:n.2221+1400C>T | |
| XM_017007772.2:c.2221+1400C>T | XP_016863261.1:n.2221+1400C>T | |
| XM_017007773.2:c.2221+1400C>T | XP_016863262.1:n.2221+1400C>T | |
| XM_017007774.2:c.2221+1400C>T | XP_016863263.1:n.2221+1400C>T | |
| XM_017007775.2:c.2221+1400C>T | XP_016863264.1:n.2221+1400C>T | |
| XM_017007776.2:c.2221+1400C>T | XP_016863265.1:n.2221+1400C>T | |
| XM_017007777.2:c.454+1400C>T | XP_016863266.1:n.454+1400C>T | |
| XR_001741145.2:n.2535+1400C>T | ||
| NM_001306215.2:c.2221+1400C>T MANE Select | NP_001293144.1:n.2221+1400C>T | |
| NM_178835.5:c.2221+1400C>T | NP_849157.2:n.2221+1400C>T |