gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63268814A>C , CM000680.2:g.63268814A>C | GRCh38 |
| NC_000018.9:g.60936047A>C , CM000680.1:g.60936047A>C | GRCh37 |
| NC_000018.8:g.59087027A>C | NCBI36 |
| NG_009361.1:g.55567T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333681.5:c.585+49268T>G MANE Select | ENSP00000329623.3:n.585+49268T>G | |
| ENST00000677227.1:c.913+12073T>G | ENSP00000504566.1:n.913+12073T>G | |
| ENST00000678134.1:c.789+32848T>G | ENSP00000503628.1:n.789+32848T>G | |
| ENST00000678349.1:c.1137+48716T>G | ENSP00000504190.1:n.1137+48716T>G | |
| ENST00000333681.4:c.585+49268T>G | ENSP00000329623.3:n.585+49268T>G | |
| ENST00000398117.1:c.585+49268T>G | ENSP00000381185.1:n.585+49268T>G | |
| NM_000633.2:c.585+49268T>G | NP_000624.2:n.585+49268T>G | |
| XR_935246.1:n.2025+12073T>G | ||
| XR_935247.1:n.2026-9007T>G | ||
| XR_935248.1:n.1804+12073T>G | ||
| XR_935248.3:n.2306+12073T>G | ||
| NM_000633.3:c.585+49268T>G MANE Select | NP_000624.2:n.585+49268T>G |