Linked Data
dbSNP Id:
rs1445453138
gnomAD v2:
5-142674948-T-A
gnomAD v3:
5-143295383-T-A
gnomAD v4:
5-143295383-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143295383T>A , CM000667.2:g.143295383T>A | GRCh38 |
| NC_000005.9:g.142674948T>A , CM000667.1:g.142674948T>A | GRCh37 |
| NC_000005.8:g.142655141T>A | NCBI36 |
| NG_009062.1:g.145130A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394464.7:c.2023+77A>T MANE Select | ENSP00000377977.2:n.2023+77A>T | |
| ENST00000652686.1:c.1930+77A>T | ENSP00000498663.1:n.1930+77A>T | |
| ENST00000231509.7:c.2026+77A>T | ENSP00000231509.3:n.2026+77A>T | |
| ENST00000343796.6:c.2023+77A>T | ENSP00000343205.2:n.2023+77A>T | |
| ENST00000394464.6:c.2023+77A>T | ENSP00000377977.2:n.2023+77A>T | |
| ENST00000394466.6:c.2026+77A>T | ENSP00000377979.2:n.2026+77A>T | |
| ENST00000415690.6:c.2023+77A>T | ENSP00000387672.2:n.2023+77A>T | |
| ENST00000424646.6:c.1945+77A>T | ENSP00000405282.2:n.1945+77A>T | |
| ENST00000503201.1:c.2023+77A>T | ENSP00000427672.1:n.2023+77A>T | |
| ENST00000504572.5:c.2026+77A>T | ENSP00000422518.1:n.2026+77A>T | |
| NM_000176.2:c.2023+77A>T | NP_000167.1:n.2023+77A>T | |
| NM_001018074.1:c.2023+77A>T | NP_001018084.1:n.2023+77A>T | |
| NM_001018075.1:c.2023+77A>T | NP_001018085.1:n.2023+77A>T | |
| NM_001018076.1:c.2023+77A>T | NP_001018086.1:n.2023+77A>T | |
| NM_001018077.1:c.2023+77A>T | NP_001018087.1:n.2023+77A>T | |
| NM_001020825.1:c.2023+77A>T | NP_001018661.1:n.2023+77A>T | |
| NM_001024094.1:c.2026+77A>T | NP_001019265.1:n.2026+77A>T | |
| NM_001204258.1:c.1945+77A>T | NP_001191187.1:n.1945+77A>T | |
| NM_001204259.1:c.1768+77A>T | NP_001191188.1:n.1768+77A>T | |
| NM_001204260.1:c.1756+77A>T | NP_001191189.1:n.1756+77A>T | |
| NM_001204261.1:c.1732+77A>T | NP_001191190.1:n.1732+77A>T | |
| NM_001204262.1:c.1078+77A>T | NP_001191191.1:n.1078+77A>T | |
| NM_001204263.1:c.1033+77A>T | NP_001191192.1:n.1033+77A>T | |
| NM_001204264.1:c.1018+77A>T | NP_001191193.1:n.1018+77A>T | |
| NM_001204265.1:c.*69A>T | NP_001191194.1:n.*69A>T | |
| XM_005268419.2:c.2026+77A>T | XP_005268476.1:n.2026+77A>T | |
| XM_005268420.3:c.2026+77A>T | XP_005268477.1:n.2026+77A>T | |
| XM_005268422.2:c.2026+77A>T | XP_005268479.1:n.2026+77A>T | |
| XM_005268423.2:c.2026+77A>T | XP_005268480.1:n.2026+77A>T | |
| XM_011537637.1:c.832+77A>T | XP_011535939.1:n.832+77A>T | |
| NR_157096.1:n.946+77A>T | ||
| XM_005268419.4:c.2026+77A>T | XP_005268476.1:n.2026+77A>T | |
| XM_005268420.4:c.2026+77A>T | XP_005268477.1:n.2026+77A>T | |
| XM_005268422.3:c.2026+77A>T | XP_005268479.1:n.2026+77A>T | |
| XM_005268423.3:c.2026+77A>T | XP_005268480.1:n.2026+77A>T | |
| XM_011537637.3:c.832+77A>T | XP_011535939.1:n.832+77A>T | |
| XM_017009397.1:c.2023+77A>T | XP_016864886.1:n.2023+77A>T | |
| XM_017009398.1:c.2023+77A>T | XP_016864887.1:n.2023+77A>T | |
| NM_000176.3:c.2023+77A>T MANE Select | NP_000167.1:n.2023+77A>T | |
| NM_001364180.1:c.2023+77A>T | NP_001351109.1:n.2023+77A>T | |
| NM_001364181.1:c.2023+77A>T | NP_001351110.1:n.2023+77A>T | |
| NM_001364182.1:c.2023+77A>T | NP_001351111.1:n.2023+77A>T | |
| NM_001364183.1:c.2026+77A>T | NP_001351112.1:n.2026+77A>T | |
| NM_001364184.1:c.2026+77A>T | NP_001351113.1:n.2026+77A>T | |
| NM_001364185.1:c.2026+77A>T | NP_001351114.1:n.2026+77A>T | |
| NM_001018076.2:c.2023+77A>T | NP_001018086.1:n.2023+77A>T | |
| NM_001020825.2:c.2023+77A>T | NP_001018661.1:n.2023+77A>T | |
| NM_001024094.2:c.2026+77A>T | NP_001019265.1:n.2026+77A>T | |
| NM_001204258.2:c.1945+77A>T | NP_001191187.1:n.1945+77A>T | |
| NM_001204259.2:c.1768+77A>T | NP_001191188.1:n.1768+77A>T | |
| NM_001204260.2:c.1756+77A>T | NP_001191189.1:n.1756+77A>T | |
| NM_001204261.2:c.1732+77A>T | NP_001191190.1:n.1732+77A>T | |
| NM_001204262.2:c.1078+77A>T | NP_001191191.1:n.1078+77A>T | |
| NM_001204263.2:c.1033+77A>T | NP_001191192.1:n.1033+77A>T | |
| NM_001204264.2:c.1018+77A>T | NP_001191193.1:n.1018+77A>T | |
| NM_001204265.2:c.*69A>T | NP_001191194.1:n.*69A>T | |
| NM_001364180.2:c.2023+77A>T | NP_001351109.1:n.2023+77A>T | |
| NM_001364181.2:c.2023+77A>T | NP_001351110.1:n.2023+77A>T | |
| NM_001364183.2:c.2026+77A>T | NP_001351112.1:n.2026+77A>T | |
| NM_001364184.2:c.2026+77A>T | NP_001351113.1:n.2026+77A>T | |
| NR_157096.2:n.946+77A>T |